Canonical Allele Identifier: CA414841874
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4063G>C MANE Select ENSP00000322408.4:p.Gly1355Arg
ENST00000317961.8:c.4063G>C ENSP00000322408.4:p.Gly1355Arg
ENST00000382806.6:c.3892G>C ENSP00000372256.2:p.Gly1298Arg
ENST00000440077.5:c.3940G>C ENSP00000398543.1:p.Gly1314Arg
ENST00000469599.6:n.2661G>C
ENST00000492117.1:n.3955G>C
ENST00000541639.5:c.4156G>C ENSP00000444293.1:p.Gly1386Arg
NM_001146705.1:c.4156G>C NP_001140177.1:p.Gly1386Arg
NM_001146706.1:c.3892G>C NP_001140178.1:p.Gly1298Arg
NM_004653.4:c.4063G>C NP_004644.2:p.Gly1355Arg
XM_005262560.1:c.3928G>C XP_005262617.1:p.Gly1310Arg
XM_005262561.1:c.3832G>C XP_005262618.1:p.Gly1278Arg
XM_011531468.1:c.3985G>C XP_011529770.1:p.Gly1329Arg
XR_244571.2:n.4351G>C
XR_430568.2:n.4685G>C
XM_005262560.3:c.3928G>C XP_005262617.1:p.Gly1310Arg
XM_005262561.3:c.3832G>C XP_005262618.1:p.Gly1278Arg
XM_011531468.3:c.3985G>C XP_011529770.1:p.Gly1329Arg
XM_024452495.1:c.2053G>C XP_024308263.1:p.Gly685Arg
XM_024452496.1:c.1819G>C XP_024308264.1:p.Gly607Arg
XR_001756009.2:n.4801G>C
XR_001756010.2:n.4801G>C
XR_001756011.2:n.4666G>C
XR_001756012.2:n.4814G>C
XR_001756013.2:n.4132G>C
XR_002958832.1:n.4233G>C
XR_002958834.1:n.4457G>C
XR_002958835.1:n.4340G>C
XR_002958836.1:n.5023G>C
XR_002958837.1:n.4830G>C
XR_244571.4:n.4350G>C
XR_430568.4:n.4684G>C
NM_001146706.2:c.3892G>C NP_001140178.1:p.Gly1298Arg
NM_004653.5:c.4063G>C MANE Select NP_004644.2:p.Gly1355Arg
NM_001146705.2:c.4156G>C NP_001140177.1:p.Gly1386Arg