Canonical Allele Identifier: CA414840210
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706119T>A , CM000686.2:g.19706119T>A GRCh38
NC_000024.9:g.21868005T>A , CM000686.1:g.21868005T>A GRCh37
NC_000024.8:g.20327393T>A NCBI36
NG_032920.1:g.43821A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4496A>T MANE Select ENSP00000322408.4:p.Asp1499Val
ENST00000317961.8:c.4496A>T ENSP00000322408.4:p.Asp1499Val
ENST00000382806.6:c.4325A>T ENSP00000372256.2:p.Asp1442Val
ENST00000440077.5:c.4373A>T ENSP00000398543.1:p.Asp1458Val
ENST00000469599.6:n.3247A>T
ENST00000492117.1:n.4541A>T
ENST00000541639.5:c.4589A>T ENSP00000444293.1:p.Asp1530Val
NM_001146705.1:c.4589A>T NP_001140177.1:p.Asp1530Val
NM_001146706.1:c.4325A>T NP_001140178.1:p.Asp1442Val
NM_004653.4:c.4496A>T NP_004644.2:p.Asp1499Val
XM_005262560.1:c.4361A>T XP_005262617.1:p.Asp1454Val
XM_005262561.1:c.4265A>T XP_005262618.1:p.Asp1422Val
XM_011531468.1:c.4418A>T XP_011529770.1:p.Asp1473Val
XR_430568.2:n.5271A>T
XM_005262560.3:c.4361A>T XP_005262617.1:p.Asp1454Val
XM_005262561.3:c.4265A>T XP_005262618.1:p.Asp1422Val
XM_011531468.3:c.4418A>T XP_011529770.1:p.Asp1473Val
XM_024452495.1:c.2486A>T XP_024308263.1:p.Asp829Val
XM_024452496.1:c.2252A>T XP_024308264.1:p.Asp751Val
XR_001756009.2:n.5234A>T
XR_001756010.2:n.5202A>T
XR_001756011.2:n.5099A>T
XR_001756012.2:n.5247A>T
XR_001756013.2:n.4565A>T
XR_002958832.1:n.4819A>T
XR_002958834.1:n.4890A>T
XR_002958835.1:n.4773A>T
XR_002958836.1:n.5424A>T
XR_002958837.1:n.5231A>T
XR_244571.4:n.4751A>T
XR_430568.4:n.5270A>T
NM_001146706.2:c.4325A>T NP_001140178.1:p.Asp1442Val
NM_004653.5:c.4496A>T MANE Select NP_004644.2:p.Asp1499Val
NM_001146705.2:c.4589A>T NP_001140177.1:p.Asp1530Val