Canonical Allele Identifier: CA337728163
Gene: UTY HGNC NCBI

Linked Data

dbSNP Id: rs113965720
gnomAD v3: Y-13259961-T-C
gnomAD v4: Y-13259961-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.13259961T>C , CM000686.2:g.13259961T>C GRCh38
NC_000024.9:g.15371841T>C , CM000686.1:g.15371841T>C GRCh37
NC_000024.8:g.13881235T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382896.9:c.4071+317A>G ENSP00000372352.5:n.4071+317A>G
ENST00000537580.6:c.3981+317A>G ENSP00000439922.2:n.3981+317A>G
ENST00000538878.6:c.3894+317A>G ENSP00000445274.2:n.3894+317A>G
ENST00000540140.6:c.3972+317A>G ENSP00000441943.2:n.3972+317A>G
ENST00000545955.6:c.4137+317A>G MANE Select ENSP00000442047.2:n.4137+317A>G
ENST00000612274.5:c.3906+317A>G ENSP00000485013.1:n.3906+317A>G
ENST00000617789.5:c.4002+317A>G ENSP00000483735.1:n.4002+317A>G
ENST00000618474.5:c.3597+317A>G ENSP00000484698.1:n.3597+317A>G
ENST00000682112.1:c.*1305+317A>G ENSP00000508171.1:n.*1305+317A>G
ENST00000682216.1:c.3846+317A>G ENSP00000507656.1:n.3846+317A>G
ENST00000682761.1:c.1870+317A>G
ENST00000682913.1:c.3981+317A>G ENSP00000507736.1:n.3981+317A>G
ENST00000684226.1:c.2973+317A>G ENSP00000507919.1:n.2973+317A>G
ENST00000331397.8:c.3846+317A>G ENSP00000328939.4:n.3846+317A>G
ENST00000382896.8:c.3981+317A>G ENSP00000372352.4:n.3981+317A>G
ENST00000537580.5:c.3981+317A>G ENSP00000439922.2:n.3981+317A>G
ENST00000538878.5:c.3894+317A>G ENSP00000445274.2:n.3894+317A>G
ENST00000540140.5:c.3972+317A>G ENSP00000441943.2:n.3972+317A>G
ENST00000545955.5:c.4137+317A>G ENSP00000442047.2:n.4137+317A>G
ENST00000612274.4:c.3906+317A>G ENSP00000485013.1:n.3906+317A>G
ENST00000617789.4:c.4002+317A>G ENSP00000483735.1:n.4002+317A>G
ENST00000618474.4:c.3597+317A>G ENSP00000484698.1:n.3597+317A>G
ENST00000624098.3:c.3609+317A>G ENSP00000485539.2:n.3609+317A>G
NM_001258249.1:c.4137+317A>G NP_001245178.1:n.4137+317A>G
NM_001258250.1:c.3426+317A>G NP_001245179.1:n.3426+317A>G
NM_001258251.1:c.3894+317A>G NP_001245180.1:n.3894+317A>G
NM_001258252.1:c.3981+317A>G NP_001245181.1:n.3981+317A>G
NM_001258253.1:c.3894+317A>G NP_001245182.1:n.3894+317A>G
NM_001258254.1:c.3609+317A>G NP_001245183.1:n.3609+317A>G
NM_001258255.1:c.3609+317A>G NP_001245184.1:n.3609+317A>G
NM_001258256.1:c.3981+317A>G NP_001245185.1:n.3981+317A>G
NM_001258257.1:c.3474+317A>G NP_001245186.1:n.3474+317A>G
NM_001258258.1:c.4002+317A>G NP_001245187.1:n.4002+317A>G
NM_001258259.1:c.3798+317A>G NP_001245188.1:n.3798+317A>G
NM_001258260.1:c.3936+317A>G NP_001245189.1:n.3936+317A>G
NM_001258261.1:c.3972+317A>G NP_001245190.1:n.3972+317A>G
NM_001258262.1:c.3765+317A>G NP_001245191.1:n.3765+317A>G
NM_001258263.1:c.3846+317A>G NP_001245192.1:n.3846+317A>G
NM_001258264.1:c.3933+317A>G NP_001245193.1:n.3933+317A>G
NM_001258265.1:c.3597+317A>G NP_001245194.1:n.3597+317A>G
NM_001258266.1:c.3906+317A>G NP_001245195.1:n.3906+317A>G
NM_001258267.1:c.3846+317A>G NP_001245196.1:n.3846+317A>G
NM_001258268.1:c.3609+317A>G NP_001245197.1:n.3609+317A>G
NM_001258269.1:c.3699+317A>G NP_001245198.1:n.3699+317A>G
NM_001258270.1:c.3474+317A>G NP_001245199.1:n.3474+317A>G
NM_007125.4:c.3846+317A>G NP_009056.3:n.3846+317A>G
NR_047596.1:n.4078+317A>G
NR_047597.1:n.4957+317A>G
NR_047598.1:n.5155+317A>G
NR_047599.1:n.4974+317A>G
NR_047600.1:n.4775+317A>G
NR_047601.1:n.4451+317A>G
NR_047602.1:n.4816+317A>G
NR_047603.1:n.4974+317A>G
NR_047604.1:n.3944+317A>G
NR_047605.1:n.4135+317A>G
NR_047606.1:n.4214+317A>G
NR_047607.1:n.5197+317A>G
NR_047608.1:n.4233+317A>G
NR_047609.1:n.4609+317A>G
NR_047610.1:n.4146+317A>G
NR_047611.1:n.4213+317A>G
NR_047612.1:n.4369+317A>G
NR_047613.1:n.4131+317A>G
NR_047614.1:n.4350+317A>G
NR_047615.1:n.4204+317A>G
NR_047616.1:n.4130+317A>G
NR_047617.1:n.4247+317A>G
NR_047618.1:n.4952+317A>G
NR_047619.1:n.4136+317A>G
NR_047620.1:n.4213+317A>G
NR_047621.1:n.4318+317A>G
NR_047622.1:n.4270+317A>G
NR_047623.1:n.4281+317A>G
NR_047624.1:n.5071+317A>G
NR_047625.1:n.3951+317A>G
NR_047626.1:n.4078+317A>G
NR_047627.1:n.4093+317A>G
NR_047628.1:n.4126+317A>G
NR_047629.1:n.4345+317A>G
NR_047630.1:n.4003+317A>G
NR_047631.1:n.4170+317A>G
NR_047632.1:n.4627+317A>G
NR_047633.1:n.4127+317A>G
NR_047634.1:n.4077+317A>G
NR_047635.1:n.4846+317A>G
NR_047636.1:n.4216+317A>G
NR_047637.1:n.4909+317A>G
NR_047638.1:n.4917+317A>G
NR_047639.1:n.3984+317A>G
NR_047640.1:n.4062+317A>G
NR_047641.1:n.4919+317A>G
NR_047642.1:n.4956+317A>G
NR_047643.1:n.4451+317A>G
NR_047644.1:n.5044+317A>G
NR_047645.1:n.5057+317A>G
NR_047646.1:n.4724+317A>G
NR_047647.1:n.4808+317A>G
XM_011531441.1:c.4185+317A>G XP_011529743.1:n.4185+317A>G
XM_011531442.1:c.4137+317A>G XP_011529744.1:n.4137+317A>G
XM_011531443.1:c.4119+317A>G XP_011529745.1:n.4119+317A>G
XM_011531444.1:c.4071+317A>G XP_011529746.1:n.4071+317A>G
XM_011531445.1:c.4050+317A>G XP_011529747.1:n.4050+317A>G
XM_011531446.1:c.4029+317A>G XP_011529748.1:n.4029+317A>G
XM_011531447.1:c.4002+317A>G XP_011529749.1:n.4002+317A>G
XM_011531448.1:c.3984+317A>G XP_011529750.1:n.3984+317A>G
XM_011531449.1:c.3981+317A>G XP_011529751.1:n.3981+317A>G
XM_011531450.1:c.3936+317A>G XP_011529752.1:n.3936+317A>G
XM_011531451.1:c.3894+317A>G XP_011529753.1:n.3894+317A>G
XM_011531452.1:c.3846+317A>G XP_011529754.1:n.3846+317A>G
XM_011531453.1:c.4185+317A>G XP_011529755.1:n.4185+317A>G
XM_011531454.1:c.4185+317A>G XP_011529756.1:n.4185+317A>G
XM_011531455.1:c.4185+317A>G XP_011529757.1:n.4185+317A>G
XM_011531456.1:c.4185+317A>G XP_011529758.1:n.4185+317A>G
XM_011531457.1:c.4185+317A>G XP_011529759.1:n.4185+317A>G
XM_011531458.1:c.4071+317A>G XP_011529760.1:n.4071+317A>G
XM_011531466.1:c.4119+317A>G XP_011529768.1:n.4119+317A>G
XM_011531467.1:c.4029+317A>G XP_011529769.1:n.4029+317A>G
XM_011531441.3:c.4185+317A>G XP_011529743.1:n.4185+317A>G
XM_011531442.3:c.4137+317A>G XP_011529744.1:n.4137+317A>G
XM_011531443.3:c.4119+317A>G XP_011529745.1:n.4119+317A>G
XM_011531445.3:c.4050+317A>G XP_011529747.1:n.4050+317A>G
XM_011531446.3:c.4029+317A>G XP_011529748.1:n.4029+317A>G
XM_011531447.3:c.4002+317A>G XP_011529749.1:n.4002+317A>G
XM_011531448.3:c.3984+317A>G XP_011529750.1:n.3984+317A>G
XM_011531449.3:c.3981+317A>G XP_011529751.1:n.3981+317A>G
XM_011531450.3:c.3936+317A>G XP_011529752.1:n.3936+317A>G
XM_011531451.3:c.3894+317A>G XP_011529753.1:n.3894+317A>G
XM_011531452.3:c.3846+317A>G XP_011529754.1:n.3846+317A>G
XM_011531453.3:c.4185+317A>G XP_011529755.1:n.4185+317A>G
XM_011531454.3:c.4185+317A>G XP_011529756.1:n.4185+317A>G
XM_011531455.3:c.4185+317A>G XP_011529757.1:n.4185+317A>G
XM_011531458.3:c.4071+317A>G XP_011529760.1:n.4071+317A>G
XM_017030066.2:c.4071+317A>G XP_016885555.1:n.4071+317A>G
XM_017030067.2:c.3981+317A>G XP_016885556.1:n.3981+317A>G
XM_017030068.2:c.3846+317A>G XP_016885557.1:n.3846+317A>G
XM_017030074.2:c.4119+317A>G XP_016885563.1:n.4119+317A>G
NM_001258249.2:c.4137+317A>G MANE Select NP_001245178.1:n.4137+317A>G
NM_001400170.1:c.3981+317A>G NP_001387099.1:n.3981+317A>G
NM_001400171.1:c.3936+317A>G NP_001387100.1:n.3936+317A>G
NM_001400173.1:c.3846+317A>G NP_001387102.1:n.3846+317A>G
NM_001400175.1:c.4071+317A>G NP_001387104.1:n.4071+317A>G
NM_001400177.1:c.4071+317A>G NP_001387106.1:n.4071+317A>G
NM_001400178.1:c.3981+317A>G NP_001387107.1:n.3981+317A>G
NM_001400181.1:c.3846+317A>G NP_001387110.1:n.3846+317A>G
NR_174404.1:n.3597+317A>G