Canonical Allele Identifier: CA414843164
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707444A>T , CM000686.2:g.19707444A>T GRCh38
NC_000024.9:g.21869330A>T , CM000686.1:g.21869330A>T GRCh37
NC_000024.8:g.20328718A>T NCBI36
NG_032920.1:g.42496T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3702T>A MANE Select ENSP00000322408.4:p.Cys1234Ter
ENST00000317961.8:c.3702T>A ENSP00000322408.4:p.Cys1234Ter
ENST00000382806.6:c.3531T>A ENSP00000372256.2:p.Cys1177Ter
ENST00000415360.1:c.618T>A ENSP00000389433.1:p.Cys206Ter
ENST00000440077.5:c.3579T>A ENSP00000398543.1:p.Cys1193Ter
ENST00000469599.6:n.2300T>A
ENST00000492117.1:n.3594T>A
ENST00000541639.5:c.3795T>A ENSP00000444293.1:p.Cys1265Ter
NM_001146705.1:c.3795T>A NP_001140177.1:p.Cys1265Ter
NM_001146706.1:c.3531T>A NP_001140178.1:p.Cys1177Ter
NM_004653.4:c.3702T>A NP_004644.2:p.Cys1234Ter
XM_005262560.1:c.3567T>A XP_005262617.1:p.Cys1189Ter
XM_005262561.1:c.3471T>A XP_005262618.1:p.Cys1157Ter
XM_011531468.1:c.3624T>A XP_011529770.1:p.Cys1208Ter
XR_244571.2:n.3990T>A
XR_430568.2:n.4324T>A
XM_005262560.3:c.3567T>A XP_005262617.1:p.Cys1189Ter
XM_005262561.3:c.3471T>A XP_005262618.1:p.Cys1157Ter
XM_011531468.3:c.3624T>A XP_011529770.1:p.Cys1208Ter
XM_024452495.1:c.1692T>A XP_024308263.1:p.Cys564Ter
XM_024452496.1:c.1458T>A XP_024308264.1:p.Cys486Ter
XR_001756009.2:n.4440T>A
XR_001756010.2:n.4440T>A
XR_001756011.2:n.4305T>A
XR_001756012.2:n.4453T>A
XR_001756013.2:n.3771T>A
XR_002958832.1:n.3872T>A
XR_002958834.1:n.4096T>A
XR_002958835.1:n.3979T>A
XR_002958836.1:n.4662T>A
XR_002958837.1:n.4469T>A
XR_244571.4:n.3989T>A
XR_430568.4:n.4323T>A
NM_001146706.2:c.3531T>A NP_001140178.1:p.Cys1177Ter
NM_004653.5:c.3702T>A MANE Select NP_004644.2:p.Cys1234Ter
NM_001146705.2:c.3795T>A NP_001140177.1:p.Cys1265Ter