Canonical Allele Identifier: CA414840116
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4519A>G MANE Select ENSP00000322408.4:p.Asn1507Asp
ENST00000317961.8:c.4519A>G ENSP00000322408.4:p.Asn1507Asp
ENST00000382806.6:c.4348A>G ENSP00000372256.2:p.Asn1450Asp
ENST00000440077.5:c.4396A>G ENSP00000398543.1:p.Asn1466Asp
ENST00000469599.6:n.3270A>G
ENST00000492117.1:n.4564A>G
ENST00000541639.5:c.4612A>G ENSP00000444293.1:p.Asn1538Asp
NM_001146705.1:c.4612A>G NP_001140177.1:p.Asn1538Asp
NM_001146706.1:c.4348A>G NP_001140178.1:p.Asn1450Asp
NM_004653.4:c.4519A>G NP_004644.2:p.Asn1507Asp
XM_005262560.1:c.4384A>G XP_005262617.1:p.Asn1462Asp
XM_005262561.1:c.4288A>G XP_005262618.1:p.Asn1430Asp
XM_011531468.1:c.4441A>G XP_011529770.1:p.Asn1481Asp
XR_430568.2:n.5294A>G
XM_005262560.3:c.4384A>G XP_005262617.1:p.Asn1462Asp
XM_005262561.3:c.4288A>G XP_005262618.1:p.Asn1430Asp
XM_011531468.3:c.4441A>G XP_011529770.1:p.Asn1481Asp
XM_024452495.1:c.2509A>G XP_024308263.1:p.Asn837Asp
XM_024452496.1:c.2275A>G XP_024308264.1:p.Asn759Asp
XR_001756009.2:n.5257A>G
XR_001756010.2:n.5225A>G
XR_001756011.2:n.5122A>G
XR_001756012.2:n.5270A>G
XR_001756013.2:n.4588A>G
XR_002958832.1:n.4842A>G
XR_002958834.1:n.4913A>G
XR_002958835.1:n.4796A>G
XR_002958836.1:n.5447A>G
XR_002958837.1:n.5254A>G
XR_244571.4:n.4774A>G
XR_430568.4:n.5293A>G
NM_001146706.2:c.4348A>G NP_001140178.1:p.Asn1450Asp
NM_004653.5:c.4519A>G MANE Select NP_004644.2:p.Asn1507Asp
NM_001146705.2:c.4612A>G NP_001140177.1:p.Asn1538Asp