Canonical Allele Identifier: CA414840118
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706096T>A , CM000686.2:g.19706096T>A GRCh38
NC_000024.9:g.21867982T>A , CM000686.1:g.21867982T>A GRCh37
NC_000024.8:g.20327370T>A NCBI36
NG_032920.1:g.43844A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4519A>T MANE Select ENSP00000322408.4:p.Asn1507Tyr
ENST00000317961.8:c.4519A>T ENSP00000322408.4:p.Asn1507Tyr
ENST00000382806.6:c.4348A>T ENSP00000372256.2:p.Asn1450Tyr
ENST00000440077.5:c.4396A>T ENSP00000398543.1:p.Asn1466Tyr
ENST00000469599.6:n.3270A>T
ENST00000492117.1:n.4564A>T
ENST00000541639.5:c.4612A>T ENSP00000444293.1:p.Asn1538Tyr
NM_001146705.1:c.4612A>T NP_001140177.1:p.Asn1538Tyr
NM_001146706.1:c.4348A>T NP_001140178.1:p.Asn1450Tyr
NM_004653.4:c.4519A>T NP_004644.2:p.Asn1507Tyr
XM_005262560.1:c.4384A>T XP_005262617.1:p.Asn1462Tyr
XM_005262561.1:c.4288A>T XP_005262618.1:p.Asn1430Tyr
XM_011531468.1:c.4441A>T XP_011529770.1:p.Asn1481Tyr
XR_430568.2:n.5294A>T
XM_005262560.3:c.4384A>T XP_005262617.1:p.Asn1462Tyr
XM_005262561.3:c.4288A>T XP_005262618.1:p.Asn1430Tyr
XM_011531468.3:c.4441A>T XP_011529770.1:p.Asn1481Tyr
XM_024452495.1:c.2509A>T XP_024308263.1:p.Asn837Tyr
XM_024452496.1:c.2275A>T XP_024308264.1:p.Asn759Tyr
XR_001756009.2:n.5257A>T
XR_001756010.2:n.5225A>T
XR_001756011.2:n.5122A>T
XR_001756012.2:n.5270A>T
XR_001756013.2:n.4588A>T
XR_002958832.1:n.4842A>T
XR_002958834.1:n.4913A>T
XR_002958835.1:n.4796A>T
XR_002958836.1:n.5447A>T
XR_002958837.1:n.5254A>T
XR_244571.4:n.4774A>T
XR_430568.4:n.5293A>T
NM_001146706.2:c.4348A>T NP_001140178.1:p.Asn1450Tyr
NM_004653.5:c.4519A>T MANE Select NP_004644.2:p.Asn1507Tyr
NM_001146705.2:c.4612A>T NP_001140177.1:p.Asn1538Tyr