Canonical Allele Identifier: CA414843620
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707570A>T , CM000686.2:g.19707570A>T GRCh38
NC_000024.9:g.21869456A>T , CM000686.1:g.21869456A>T GRCh37
NC_000024.8:g.20328844A>T NCBI36
NG_032920.1:g.42370T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3576T>A MANE Select ENSP00000322408.4:p.Cys1192Ter
ENST00000317961.8:c.3576T>A ENSP00000322408.4:p.Cys1192Ter
ENST00000382806.6:c.3405T>A ENSP00000372256.2:p.Cys1135Ter
ENST00000415360.1:c.492T>A ENSP00000389433.1:p.Cys164Ter
ENST00000440077.5:c.3453T>A ENSP00000398543.1:p.Cys1151Ter
ENST00000469599.6:n.2174T>A
ENST00000492117.1:n.3468T>A
ENST00000541639.5:c.3669T>A ENSP00000444293.1:p.Cys1223Ter
NM_001146705.1:c.3669T>A NP_001140177.1:p.Cys1223Ter
NM_001146706.1:c.3405T>A NP_001140178.1:p.Cys1135Ter
NM_004653.4:c.3576T>A NP_004644.2:p.Cys1192Ter
XM_005262560.1:c.3441T>A XP_005262617.1:p.Cys1147Ter
XM_005262561.1:c.3345T>A XP_005262618.1:p.Cys1115Ter
XM_011531468.1:c.3498T>A XP_011529770.1:p.Cys1166Ter
XR_244571.2:n.3864T>A
XR_430568.2:n.4198T>A
XM_005262560.3:c.3441T>A XP_005262617.1:p.Cys1147Ter
XM_005262561.3:c.3345T>A XP_005262618.1:p.Cys1115Ter
XM_011531468.3:c.3498T>A XP_011529770.1:p.Cys1166Ter
XM_024452495.1:c.1566T>A XP_024308263.1:p.Cys522Ter
XM_024452496.1:c.1332T>A XP_024308264.1:p.Cys444Ter
XR_001756009.2:n.4314T>A
XR_001756010.2:n.4314T>A
XR_001756011.2:n.4179T>A
XR_001756012.2:n.4327T>A
XR_001756013.2:n.3645T>A
XR_002958832.1:n.3746T>A
XR_002958834.1:n.3970T>A
XR_002958835.1:n.3853T>A
XR_002958836.1:n.4536T>A
XR_002958837.1:n.4343T>A
XR_244571.4:n.3863T>A
XR_430568.4:n.4197T>A
NM_001146706.2:c.3405T>A NP_001140178.1:p.Cys1135Ter
NM_004653.5:c.3576T>A MANE Select NP_004644.2:p.Cys1192Ter
NM_001146705.2:c.3669T>A NP_001140177.1:p.Cys1223Ter