Canonical Allele Identifier: CA414844306
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707954G>T , CM000686.2:g.19707954G>T GRCh38
NC_000024.9:g.21869840G>T , CM000686.1:g.21869840G>T GRCh37
NC_000024.8:g.20329228G>T NCBI36
NG_032920.1:g.41986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3379C>A MANE Select ENSP00000322408.4:p.Leu1127Ile
ENST00000317961.8:c.3379C>A ENSP00000322408.4:p.Leu1127Ile
ENST00000382806.6:c.3208C>A ENSP00000372256.2:p.Leu1070Ile
ENST00000415360.1:c.295C>A ENSP00000389433.1:p.Leu99Ile
ENST00000440077.5:c.3256C>A ENSP00000398543.1:p.Leu1086Ile
ENST00000469599.6:n.1977C>A
ENST00000492117.1:n.3271C>A
ENST00000541639.5:c.3472C>A ENSP00000444293.1:p.Leu1158Ile
NM_001146705.1:c.3472C>A NP_001140177.1:p.Leu1158Ile
NM_001146706.1:c.3208C>A NP_001140178.1:p.Leu1070Ile
NM_004653.4:c.3379C>A NP_004644.2:p.Leu1127Ile
XM_005262560.1:c.3244C>A XP_005262617.1:p.Leu1082Ile
XM_005262561.1:c.3148C>A XP_005262618.1:p.Leu1050Ile
XM_011531468.1:c.3301C>A XP_011529770.1:p.Leu1101Ile
XR_244571.2:n.3667C>A
XR_430568.2:n.4001C>A
XM_005262560.3:c.3244C>A XP_005262617.1:p.Leu1082Ile
XM_005262561.3:c.3148C>A XP_005262618.1:p.Leu1050Ile
XM_011531468.3:c.3301C>A XP_011529770.1:p.Leu1101Ile
XM_024452495.1:c.1369C>A XP_024308263.1:p.Leu457Ile
XM_024452496.1:c.1135C>A XP_024308264.1:p.Leu379Ile
XR_001756009.2:n.4117C>A
XR_001756010.2:n.4117C>A
XR_001756011.2:n.3982C>A
XR_001756012.2:n.4130C>A
XR_001756013.2:n.3448C>A
XR_002958832.1:n.3549C>A
XR_002958834.1:n.3773C>A
XR_002958835.1:n.3656C>A
XR_002958836.1:n.4339C>A
XR_002958837.1:n.4146C>A
XR_244571.4:n.3666C>A
XR_430568.4:n.4000C>A
NM_001146706.2:c.3208C>A NP_001140178.1:p.Leu1070Ile
NM_004653.5:c.3379C>A MANE Select NP_004644.2:p.Leu1127Ile
NM_001146705.2:c.3472C>A NP_001140177.1:p.Leu1158Ile