Canonical Allele Identifier: CA414840127
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706099C>G , CM000686.2:g.19706099C>G GRCh38
NC_000024.9:g.21867985C>G , CM000686.1:g.21867985C>G GRCh37
NC_000024.8:g.20327373C>G NCBI36
NG_032920.1:g.43841G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4516G>C MANE Select ENSP00000322408.4:p.Gly1506Arg
ENST00000317961.8:c.4516G>C ENSP00000322408.4:p.Gly1506Arg
ENST00000382806.6:c.4345G>C ENSP00000372256.2:p.Gly1449Arg
ENST00000440077.5:c.4393G>C ENSP00000398543.1:p.Gly1465Arg
ENST00000469599.6:n.3267G>C
ENST00000492117.1:n.4561G>C
ENST00000541639.5:c.4609G>C ENSP00000444293.1:p.Gly1537Arg
NM_001146705.1:c.4609G>C NP_001140177.1:p.Gly1537Arg
NM_001146706.1:c.4345G>C NP_001140178.1:p.Gly1449Arg
NM_004653.4:c.4516G>C NP_004644.2:p.Gly1506Arg
XM_005262560.1:c.4381G>C XP_005262617.1:p.Gly1461Arg
XM_005262561.1:c.4285G>C XP_005262618.1:p.Gly1429Arg
XM_011531468.1:c.4438G>C XP_011529770.1:p.Gly1480Arg
XR_430568.2:n.5291G>C
XM_005262560.3:c.4381G>C XP_005262617.1:p.Gly1461Arg
XM_005262561.3:c.4285G>C XP_005262618.1:p.Gly1429Arg
XM_011531468.3:c.4438G>C XP_011529770.1:p.Gly1480Arg
XM_024452495.1:c.2506G>C XP_024308263.1:p.Gly836Arg
XM_024452496.1:c.2272G>C XP_024308264.1:p.Gly758Arg
XR_001756009.2:n.5254G>C
XR_001756010.2:n.5222G>C
XR_001756011.2:n.5119G>C
XR_001756012.2:n.5267G>C
XR_001756013.2:n.4585G>C
XR_002958832.1:n.4839G>C
XR_002958834.1:n.4910G>C
XR_002958835.1:n.4793G>C
XR_002958836.1:n.5444G>C
XR_002958837.1:n.5251G>C
XR_244571.4:n.4771G>C
XR_430568.4:n.5290G>C
NM_001146706.2:c.4345G>C NP_001140178.1:p.Gly1449Arg
NM_004653.5:c.4516G>C MANE Select NP_004644.2:p.Gly1506Arg
NM_001146705.2:c.4609G>C NP_001140177.1:p.Gly1537Arg