Canonical Allele Identifier: CA414840039
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706078G>C , CM000686.2:g.19706078G>C GRCh38
NC_000024.9:g.21867964G>C , CM000686.1:g.21867964G>C GRCh37
NC_000024.8:g.20327352G>C NCBI36
NG_032920.1:g.43862C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4537C>G MANE Select ENSP00000322408.4:p.His1513Asp
ENST00000317961.8:c.4537C>G ENSP00000322408.4:p.His1513Asp
ENST00000382806.6:c.4366C>G ENSP00000372256.2:p.His1456Asp
ENST00000440077.5:c.4414C>G ENSP00000398543.1:p.His1472Asp
ENST00000469599.6:n.3288C>G
ENST00000492117.1:n.4582C>G
ENST00000541639.5:c.4630C>G ENSP00000444293.1:p.His1544Asp
NM_001146705.1:c.4630C>G NP_001140177.1:p.His1544Asp
NM_001146706.1:c.4366C>G NP_001140178.1:p.His1456Asp
NM_004653.4:c.4537C>G NP_004644.2:p.His1513Asp
XM_005262560.1:c.4402C>G XP_005262617.1:p.His1468Asp
XM_005262561.1:c.4306C>G XP_005262618.1:p.His1436Asp
XM_011531468.1:c.4459C>G XP_011529770.1:p.His1487Asp
XR_430568.2:n.5312C>G
XM_005262560.3:c.4402C>G XP_005262617.1:p.His1468Asp
XM_005262561.3:c.4306C>G XP_005262618.1:p.His1436Asp
XM_011531468.3:c.4459C>G XP_011529770.1:p.His1487Asp
XM_024452495.1:c.2527C>G XP_024308263.1:p.His843Asp
XM_024452496.1:c.2293C>G XP_024308264.1:p.His765Asp
XR_001756009.2:n.5275C>G
XR_001756010.2:n.5243C>G
XR_001756011.2:n.5140C>G
XR_001756012.2:n.5288C>G
XR_001756013.2:n.4606C>G
XR_002958832.1:n.4860C>G
XR_002958834.1:n.4931C>G
XR_002958835.1:n.4814C>G
XR_002958836.1:n.5465C>G
XR_002958837.1:n.5272C>G
XR_244571.4:n.4792C>G
XR_430568.4:n.5311C>G
NM_001146706.2:c.4366C>G NP_001140178.1:p.His1456Asp
NM_004653.5:c.4537C>G MANE Select NP_004644.2:p.His1513Asp
NM_001146705.2:c.4630C>G NP_001140177.1:p.His1544Asp