Canonical Allele Identifier: CA414840181
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706112G>T , CM000686.2:g.19706112G>T GRCh38
NC_000024.9:g.21867998G>T , CM000686.1:g.21867998G>T GRCh37
NC_000024.8:g.20327386G>T NCBI36
NG_032920.1:g.43828C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4503C>A MANE Select ENSP00000322408.4:p.Ser1501Arg
ENST00000317961.8:c.4503C>A ENSP00000322408.4:p.Ser1501Arg
ENST00000382806.6:c.4332C>A ENSP00000372256.2:p.Ser1444Arg
ENST00000440077.5:c.4380C>A ENSP00000398543.1:p.Ser1460Arg
ENST00000469599.6:n.3254C>A
ENST00000492117.1:n.4548C>A
ENST00000541639.5:c.4596C>A ENSP00000444293.1:p.Ser1532Arg
NM_001146705.1:c.4596C>A NP_001140177.1:p.Ser1532Arg
NM_001146706.1:c.4332C>A NP_001140178.1:p.Ser1444Arg
NM_004653.4:c.4503C>A NP_004644.2:p.Ser1501Arg
XM_005262560.1:c.4368C>A XP_005262617.1:p.Ser1456Arg
XM_005262561.1:c.4272C>A XP_005262618.1:p.Ser1424Arg
XM_011531468.1:c.4425C>A XP_011529770.1:p.Ser1475Arg
XR_430568.2:n.5278C>A
XM_005262560.3:c.4368C>A XP_005262617.1:p.Ser1456Arg
XM_005262561.3:c.4272C>A XP_005262618.1:p.Ser1424Arg
XM_011531468.3:c.4425C>A XP_011529770.1:p.Ser1475Arg
XM_024452495.1:c.2493C>A XP_024308263.1:p.Ser831Arg
XM_024452496.1:c.2259C>A XP_024308264.1:p.Ser753Arg
XR_001756009.2:n.5241C>A
XR_001756010.2:n.5209C>A
XR_001756011.2:n.5106C>A
XR_001756012.2:n.5254C>A
XR_001756013.2:n.4572C>A
XR_002958832.1:n.4826C>A
XR_002958834.1:n.4897C>A
XR_002958835.1:n.4780C>A
XR_002958836.1:n.5431C>A
XR_002958837.1:n.5238C>A
XR_244571.4:n.4758C>A
XR_430568.4:n.5277C>A
NM_001146706.2:c.4332C>A NP_001140178.1:p.Ser1444Arg
NM_004653.5:c.4503C>A MANE Select NP_004644.2:p.Ser1501Arg
NM_001146705.2:c.4596C>A NP_001140177.1:p.Ser1532Arg