Canonical Allele Identifier: CA414844774
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708065A>T , CM000686.2:g.19708065A>T GRCh38
NC_000024.9:g.21869951A>T , CM000686.1:g.21869951A>T GRCh37
NC_000024.8:g.20329339A>T NCBI36
NG_032920.1:g.41875T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3268T>A MANE Select ENSP00000322408.4:p.Cys1090Ser
ENST00000317961.8:c.3268T>A ENSP00000322408.4:p.Cys1090Ser
ENST00000382806.6:c.3097T>A ENSP00000372256.2:p.Cys1033Ser
ENST00000415360.1:c.184T>A ENSP00000389433.1:p.Cys62Ser
ENST00000440077.5:c.3145T>A ENSP00000398543.1:p.Cys1049Ser
ENST00000469599.6:n.1866T>A
ENST00000492117.1:n.3160T>A
ENST00000541639.5:c.3361T>A ENSP00000444293.1:p.Cys1121Ser
NM_001146705.1:c.3361T>A NP_001140177.1:p.Cys1121Ser
NM_001146706.1:c.3097T>A NP_001140178.1:p.Cys1033Ser
NM_004653.4:c.3268T>A NP_004644.2:p.Cys1090Ser
XM_005262560.1:c.3133T>A XP_005262617.1:p.Cys1045Ser
XM_005262561.1:c.3037T>A XP_005262618.1:p.Cys1013Ser
XM_011531468.1:c.3190T>A XP_011529770.1:p.Cys1064Ser
XR_244571.2:n.3556T>A
XR_430568.2:n.3890T>A
XM_005262560.3:c.3133T>A XP_005262617.1:p.Cys1045Ser
XM_005262561.3:c.3037T>A XP_005262618.1:p.Cys1013Ser
XM_011531468.3:c.3190T>A XP_011529770.1:p.Cys1064Ser
XM_024452495.1:c.1258T>A XP_024308263.1:p.Cys420Ser
XM_024452496.1:c.1024T>A XP_024308264.1:p.Cys342Ser
XR_001756009.2:n.4006T>A
XR_001756010.2:n.4006T>A
XR_001756011.2:n.3871T>A
XR_001756012.2:n.4019T>A
XR_001756013.2:n.3337T>A
XR_002958832.1:n.3438T>A
XR_002958834.1:n.3662T>A
XR_002958835.1:n.3545T>A
XR_002958836.1:n.4228T>A
XR_002958837.1:n.4035T>A
XR_244571.4:n.3555T>A
XR_430568.4:n.3889T>A
NM_001146706.2:c.3097T>A NP_001140178.1:p.Cys1033Ser
NM_004653.5:c.3268T>A MANE Select NP_004644.2:p.Cys1090Ser
NM_001146705.2:c.3361T>A NP_001140177.1:p.Cys1121Ser