Canonical Allele Identifier: CA337728950
Gene: UTY HGNC NCBI

Linked Data

dbSNP Id: rs72625386
gnomAD v3: Y-13302753-A-T
gnomAD v4: Y-13302753-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.13302753A>T , CM000686.2:g.13302753A>T GRCh38
NC_000024.9:g.15414633A>T , CM000686.1:g.15414633A>T GRCh37
NC_000024.8:g.13924027A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382896.9:c.3614+124T>A ENSP00000372352.5:n.3614+124T>A
ENST00000537580.6:c.3524+124T>A ENSP00000439922.2:n.3524+124T>A
ENST00000538878.6:c.3437+124T>A ENSP00000445274.2:n.3437+124T>A
ENST00000540140.6:c.3515+124T>A ENSP00000441943.2:n.3515+124T>A
ENST00000545955.6:c.3680+124T>A MANE Select ENSP00000442047.2:n.3680+124T>A
ENST00000612274.5:c.3449+124T>A ENSP00000485013.1:n.3449+124T>A
ENST00000617789.5:c.3545+124T>A ENSP00000483735.1:n.3545+124T>A
ENST00000618474.5:c.3140+124T>A ENSP00000484698.1:n.3140+124T>A
ENST00000682112.1:c.*848+124T>A ENSP00000508171.1:n.*848+124T>A
ENST00000682216.1:c.3389+124T>A ENSP00000507656.1:n.3389+124T>A
ENST00000682761.1:c.1413+124T>A
ENST00000682913.1:c.3524+124T>A ENSP00000507736.1:n.3524+124T>A
ENST00000684226.1:c.2516+124T>A ENSP00000507919.1:n.2516+124T>A
ENST00000331397.8:c.3389+124T>A ENSP00000328939.4:n.3389+124T>A
ENST00000362096.8:c.3389+124T>A ENSP00000355420.4:n.3389+124T>A
ENST00000382896.8:c.3524+124T>A ENSP00000372352.4:n.3524+124T>A
ENST00000537580.5:c.3524+124T>A ENSP00000439922.2:n.3524+124T>A
ENST00000538878.5:c.3437+124T>A ENSP00000445274.2:n.3437+124T>A
ENST00000540140.5:c.3515+124T>A ENSP00000441943.2:n.3515+124T>A
ENST00000545955.5:c.3680+124T>A ENSP00000442047.2:n.3680+124T>A
ENST00000612274.4:c.3449+124T>A ENSP00000485013.1:n.3449+124T>A
ENST00000617789.4:c.3545+124T>A ENSP00000483735.1:n.3545+124T>A
ENST00000618474.4:c.3140+124T>A ENSP00000484698.1:n.3140+124T>A
ENST00000624098.3:c.3152+124T>A ENSP00000485539.2:n.3152+124T>A
NM_001258249.1:c.3680+124T>A NP_001245178.1:n.3680+124T>A
NM_001258250.1:c.2969+124T>A NP_001245179.1:n.2969+124T>A
NM_001258251.1:c.3437+124T>A NP_001245180.1:n.3437+124T>A
NM_001258252.1:c.3524+124T>A NP_001245181.1:n.3524+124T>A
NM_001258253.1:c.3437+124T>A NP_001245182.1:n.3437+124T>A
NM_001258254.1:c.3152+124T>A NP_001245183.1:n.3152+124T>A
NM_001258255.1:c.3152+124T>A NP_001245184.1:n.3152+124T>A
NM_001258256.1:c.3524+124T>A NP_001245185.1:n.3524+124T>A
NM_001258257.1:c.3017+124T>A NP_001245186.1:n.3017+124T>A
NM_001258258.1:c.3545+124T>A NP_001245187.1:n.3545+124T>A
NM_001258259.1:c.3341+124T>A NP_001245188.1:n.3341+124T>A
NM_001258260.1:c.3479+124T>A NP_001245189.1:n.3479+124T>A
NM_001258261.1:c.3515+124T>A NP_001245190.1:n.3515+124T>A
NM_001258262.1:c.3308+124T>A NP_001245191.1:n.3308+124T>A
NM_001258263.1:c.3389+124T>A NP_001245192.1:n.3389+124T>A
NM_001258264.1:c.3476+124T>A NP_001245193.1:n.3476+124T>A
NM_001258265.1:c.3140+124T>A NP_001245194.1:n.3140+124T>A
NM_001258266.1:c.3449+124T>A NP_001245195.1:n.3449+124T>A
NM_001258267.1:c.3389+124T>A NP_001245196.1:n.3389+124T>A
NM_001258268.1:c.3152+124T>A NP_001245197.1:n.3152+124T>A
NM_001258269.1:c.3242+124T>A NP_001245198.1:n.3242+124T>A
NM_001258270.1:c.3017+124T>A NP_001245199.1:n.3017+124T>A
NM_007125.4:c.3389+124T>A NP_009056.3:n.3389+124T>A
NM_182659.1:c.3389+124T>A NP_872600.1:n.3389+124T>A
NR_047596.1:n.3621+124T>A
NR_047597.1:n.4500+124T>A
NR_047598.1:n.4698+124T>A
NR_047599.1:n.4517+124T>A
NR_047600.1:n.4318+124T>A
NR_047601.1:n.3994+124T>A
NR_047602.1:n.4359+124T>A
NR_047603.1:n.4517+124T>A
NR_047604.1:n.3487+124T>A
NR_047605.1:n.3573+124T>A
NR_047606.1:n.3757+124T>A
NR_047607.1:n.4740+124T>A
NR_047608.1:n.3776+124T>A
NR_047609.1:n.4152+124T>A
NR_047610.1:n.3689+124T>A
NR_047611.1:n.3756+124T>A
NR_047612.1:n.3912+124T>A
NR_047613.1:n.3862+124T>A
NR_047614.1:n.3825+124T>A
NR_047615.1:n.3679+124T>A
NR_047616.1:n.3673+124T>A
NR_047617.1:n.3790+124T>A
NR_047618.1:n.4403+124T>A
NR_047619.1:n.3679+124T>A
NR_047620.1:n.3756+124T>A
NR_047621.1:n.3861+124T>A
NR_047622.1:n.3813+124T>A
NR_047623.1:n.3756+124T>A
NR_047624.1:n.4614+124T>A
NR_047625.1:n.3494+124T>A
NR_047626.1:n.3621+124T>A
NR_047627.1:n.3824+124T>A
NR_047628.1:n.3669+124T>A
NR_047629.1:n.3888+124T>A
NR_047630.1:n.3546+124T>A
NR_047631.1:n.3621+124T>A
NR_047632.1:n.4102+124T>A
NR_047633.1:n.3670+124T>A
NR_047634.1:n.3620+124T>A
NR_047635.1:n.4389+124T>A
NR_047636.1:n.3759+124T>A
NR_047637.1:n.4452+124T>A
NR_047638.1:n.4460+124T>A
NR_047639.1:n.3527+124T>A
NR_047640.1:n.3605+124T>A
NR_047641.1:n.4462+124T>A
NR_047642.1:n.4394+124T>A
NR_047643.1:n.3994+124T>A
NR_047644.1:n.4587+124T>A
NR_047645.1:n.4600+124T>A
NR_047646.1:n.4267+124T>A
NR_047647.1:n.4351+124T>A
XM_005262518.2:c.3524+124T>A XP_005262575.1:n.3524+124T>A
XM_006724875.2:c.3680+124T>A XP_006724938.1:n.3680+124T>A
XM_006724876.2:c.3389+124T>A XP_006724939.1:n.3389+124T>A
XM_011531441.1:c.3728+124T>A XP_011529743.1:n.3728+124T>A
XM_011531442.1:c.3680+124T>A XP_011529744.1:n.3680+124T>A
XM_011531443.1:c.3662+124T>A XP_011529745.1:n.3662+124T>A
XM_011531444.1:c.3614+124T>A XP_011529746.1:n.3614+124T>A
XM_011531445.1:c.3593+124T>A XP_011529747.1:n.3593+124T>A
XM_011531446.1:c.3572+124T>A XP_011529748.1:n.3572+124T>A
XM_011531447.1:c.3545+124T>A XP_011529749.1:n.3545+124T>A
XM_011531448.1:c.3527+124T>A XP_011529750.1:n.3527+124T>A
XM_011531449.1:c.3524+124T>A XP_011529751.1:n.3524+124T>A
XM_011531450.1:c.3479+124T>A XP_011529752.1:n.3479+124T>A
XM_011531451.1:c.3437+124T>A XP_011529753.1:n.3437+124T>A
XM_011531452.1:c.3389+124T>A XP_011529754.1:n.3389+124T>A
XM_011531453.1:c.3728+124T>A XP_011529755.1:n.3728+124T>A
XM_011531454.1:c.3728+124T>A XP_011529756.1:n.3728+124T>A
XM_011531455.1:c.3728+124T>A XP_011529757.1:n.3728+124T>A
XM_011531456.1:c.3728+124T>A XP_011529758.1:n.3728+124T>A
XM_011531457.1:c.3728+124T>A XP_011529759.1:n.3728+124T>A
XM_011531458.1:c.3614+124T>A XP_011529760.1:n.3614+124T>A
XM_011531459.1:c.3728+124T>A XP_011529761.1:n.3728+124T>A
XM_011531466.1:c.3662+124T>A XP_011529768.1:n.3662+124T>A
XM_011531467.1:c.3572+124T>A XP_011529769.1:n.3572+124T>A
XM_005262518.4:c.3524+124T>A XP_005262575.1:n.3524+124T>A
XM_006724875.4:c.3680+124T>A XP_006724938.1:n.3680+124T>A
XM_011531441.3:c.3728+124T>A XP_011529743.1:n.3728+124T>A
XM_011531442.3:c.3680+124T>A XP_011529744.1:n.3680+124T>A
XM_011531443.3:c.3662+124T>A XP_011529745.1:n.3662+124T>A
XM_011531445.3:c.3593+124T>A XP_011529747.1:n.3593+124T>A
XM_011531446.3:c.3572+124T>A XP_011529748.1:n.3572+124T>A
XM_011531447.3:c.3545+124T>A XP_011529749.1:n.3545+124T>A
XM_011531448.3:c.3527+124T>A XP_011529750.1:n.3527+124T>A
XM_011531449.3:c.3524+124T>A XP_011529751.1:n.3524+124T>A
XM_011531450.3:c.3479+124T>A XP_011529752.1:n.3479+124T>A
XM_011531451.3:c.3437+124T>A XP_011529753.1:n.3437+124T>A
XM_011531452.3:c.3389+124T>A XP_011529754.1:n.3389+124T>A
XM_011531453.3:c.3728+124T>A XP_011529755.1:n.3728+124T>A
XM_011531454.3:c.3728+124T>A XP_011529756.1:n.3728+124T>A
XM_011531455.3:c.3728+124T>A XP_011529757.1:n.3728+124T>A
XM_011531458.3:c.3614+124T>A XP_011529760.1:n.3614+124T>A
XM_011531459.3:c.3728+124T>A XP_011529761.1:n.3728+124T>A
XM_017030066.2:c.3614+124T>A XP_016885555.1:n.3614+124T>A
XM_017030067.2:c.3524+124T>A XP_016885556.1:n.3524+124T>A
XM_017030068.2:c.3389+124T>A XP_016885557.1:n.3389+124T>A
XM_017030070.2:c.3728+124T>A XP_016885559.1:n.3728+124T>A
XM_017030074.2:c.3662+124T>A XP_016885563.1:n.3662+124T>A
XM_024452493.1:c.3728+124T>A XP_024308261.1:n.3728+124T>A
XR_001756008.2:n.3744+124T>A
NM_001258249.2:c.3680+124T>A MANE Select NP_001245178.1:n.3680+124T>A
NM_001400170.1:c.3524+124T>A NP_001387099.1:n.3524+124T>A
NM_001400171.1:c.3479+124T>A NP_001387100.1:n.3479+124T>A
NM_001400173.1:c.3389+124T>A NP_001387102.1:n.3389+124T>A
NM_001400175.1:c.3614+124T>A NP_001387104.1:n.3614+124T>A
NM_001400177.1:c.3614+124T>A NP_001387106.1:n.3614+124T>A
NM_001400178.1:c.3524+124T>A NP_001387107.1:n.3524+124T>A
NM_001400181.1:c.3389+124T>A NP_001387110.1:n.3389+124T>A
NR_174404.1:n.3140+124T>A
NR_174405.1:n.3757+124T>A