Canonical Allele Identifier: CA414841876
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706800C>A , CM000686.2:g.19706800C>A GRCh38
NC_000024.9:g.21868686C>A , CM000686.1:g.21868686C>A GRCh37
NC_000024.8:g.20328074C>A NCBI36
NG_032920.1:g.43140G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4063G>T MANE Select ENSP00000322408.4:p.Gly1355Cys
ENST00000317961.8:c.4063G>T ENSP00000322408.4:p.Gly1355Cys
ENST00000382806.6:c.3892G>T ENSP00000372256.2:p.Gly1298Cys
ENST00000440077.5:c.3940G>T ENSP00000398543.1:p.Gly1314Cys
ENST00000469599.6:n.2661G>T
ENST00000492117.1:n.3955G>T
ENST00000541639.5:c.4156G>T ENSP00000444293.1:p.Gly1386Cys
NM_001146705.1:c.4156G>T NP_001140177.1:p.Gly1386Cys
NM_001146706.1:c.3892G>T NP_001140178.1:p.Gly1298Cys
NM_004653.4:c.4063G>T NP_004644.2:p.Gly1355Cys
XM_005262560.1:c.3928G>T XP_005262617.1:p.Gly1310Cys
XM_005262561.1:c.3832G>T XP_005262618.1:p.Gly1278Cys
XM_011531468.1:c.3985G>T XP_011529770.1:p.Gly1329Cys
XR_244571.2:n.4351G>T
XR_430568.2:n.4685G>T
XM_005262560.3:c.3928G>T XP_005262617.1:p.Gly1310Cys
XM_005262561.3:c.3832G>T XP_005262618.1:p.Gly1278Cys
XM_011531468.3:c.3985G>T XP_011529770.1:p.Gly1329Cys
XM_024452495.1:c.2053G>T XP_024308263.1:p.Gly685Cys
XM_024452496.1:c.1819G>T XP_024308264.1:p.Gly607Cys
XR_001756009.2:n.4801G>T
XR_001756010.2:n.4801G>T
XR_001756011.2:n.4666G>T
XR_001756012.2:n.4814G>T
XR_001756013.2:n.4132G>T
XR_002958832.1:n.4233G>T
XR_002958834.1:n.4457G>T
XR_002958835.1:n.4340G>T
XR_002958836.1:n.5023G>T
XR_002958837.1:n.4830G>T
XR_244571.4:n.4350G>T
XR_430568.4:n.4684G>T
NM_001146706.2:c.3892G>T NP_001140178.1:p.Gly1298Cys
NM_004653.5:c.4063G>T MANE Select NP_004644.2:p.Gly1355Cys
NM_001146705.2:c.4156G>T NP_001140177.1:p.Gly1386Cys