Canonical Allele Identifier: CA414844748
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708059A>T , CM000686.2:g.19708059A>T GRCh38
NC_000024.9:g.21869945A>T , CM000686.1:g.21869945A>T GRCh37
NC_000024.8:g.20329333A>T NCBI36
NG_032920.1:g.41881T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3274T>A MANE Select ENSP00000322408.4:p.Cys1092Ser
ENST00000317961.8:c.3274T>A ENSP00000322408.4:p.Cys1092Ser
ENST00000382806.6:c.3103T>A ENSP00000372256.2:p.Cys1035Ser
ENST00000415360.1:c.190T>A ENSP00000389433.1:p.Cys64Ser
ENST00000440077.5:c.3151T>A ENSP00000398543.1:p.Cys1051Ser
ENST00000469599.6:n.1872T>A
ENST00000492117.1:n.3166T>A
ENST00000541639.5:c.3367T>A ENSP00000444293.1:p.Cys1123Ser
NM_001146705.1:c.3367T>A NP_001140177.1:p.Cys1123Ser
NM_001146706.1:c.3103T>A NP_001140178.1:p.Cys1035Ser
NM_004653.4:c.3274T>A NP_004644.2:p.Cys1092Ser
XM_005262560.1:c.3139T>A XP_005262617.1:p.Cys1047Ser
XM_005262561.1:c.3043T>A XP_005262618.1:p.Cys1015Ser
XM_011531468.1:c.3196T>A XP_011529770.1:p.Cys1066Ser
XR_244571.2:n.3562T>A
XR_430568.2:n.3896T>A
XM_005262560.3:c.3139T>A XP_005262617.1:p.Cys1047Ser
XM_005262561.3:c.3043T>A XP_005262618.1:p.Cys1015Ser
XM_011531468.3:c.3196T>A XP_011529770.1:p.Cys1066Ser
XM_024452495.1:c.1264T>A XP_024308263.1:p.Cys422Ser
XM_024452496.1:c.1030T>A XP_024308264.1:p.Cys344Ser
XR_001756009.2:n.4012T>A
XR_001756010.2:n.4012T>A
XR_001756011.2:n.3877T>A
XR_001756012.2:n.4025T>A
XR_001756013.2:n.3343T>A
XR_002958832.1:n.3444T>A
XR_002958834.1:n.3668T>A
XR_002958835.1:n.3551T>A
XR_002958836.1:n.4234T>A
XR_002958837.1:n.4041T>A
XR_244571.4:n.3561T>A
XR_430568.4:n.3895T>A
NM_001146706.2:c.3103T>A NP_001140178.1:p.Cys1035Ser
NM_004653.5:c.3274T>A MANE Select NP_004644.2:p.Cys1092Ser
NM_001146705.2:c.3367T>A NP_001140177.1:p.Cys1123Ser