Canonical Allele Identifier: CA414844716
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708052T>G , CM000686.2:g.19708052T>G GRCh38
NC_000024.9:g.21869938T>G , CM000686.1:g.21869938T>G GRCh37
NC_000024.8:g.20329326T>G NCBI36
NG_032920.1:g.41888A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3281A>C MANE Select ENSP00000322408.4:p.Asp1094Ala
ENST00000317961.8:c.3281A>C ENSP00000322408.4:p.Asp1094Ala
ENST00000382806.6:c.3110A>C ENSP00000372256.2:p.Asp1037Ala
ENST00000415360.1:c.197A>C ENSP00000389433.1:p.Asp66Ala
ENST00000440077.5:c.3158A>C ENSP00000398543.1:p.Asp1053Ala
ENST00000469599.6:n.1879A>C
ENST00000492117.1:n.3173A>C
ENST00000541639.5:c.3374A>C ENSP00000444293.1:p.Asp1125Ala
NM_001146705.1:c.3374A>C NP_001140177.1:p.Asp1125Ala
NM_001146706.1:c.3110A>C NP_001140178.1:p.Asp1037Ala
NM_004653.4:c.3281A>C NP_004644.2:p.Asp1094Ala
XM_005262560.1:c.3146A>C XP_005262617.1:p.Asp1049Ala
XM_005262561.1:c.3050A>C XP_005262618.1:p.Asp1017Ala
XM_011531468.1:c.3203A>C XP_011529770.1:p.Asp1068Ala
XR_244571.2:n.3569A>C
XR_430568.2:n.3903A>C
XM_005262560.3:c.3146A>C XP_005262617.1:p.Asp1049Ala
XM_005262561.3:c.3050A>C XP_005262618.1:p.Asp1017Ala
XM_011531468.3:c.3203A>C XP_011529770.1:p.Asp1068Ala
XM_024452495.1:c.1271A>C XP_024308263.1:p.Asp424Ala
XM_024452496.1:c.1037A>C XP_024308264.1:p.Asp346Ala
XR_001756009.2:n.4019A>C
XR_001756010.2:n.4019A>C
XR_001756011.2:n.3884A>C
XR_001756012.2:n.4032A>C
XR_001756013.2:n.3350A>C
XR_002958832.1:n.3451A>C
XR_002958834.1:n.3675A>C
XR_002958835.1:n.3558A>C
XR_002958836.1:n.4241A>C
XR_002958837.1:n.4048A>C
XR_244571.4:n.3568A>C
XR_430568.4:n.3902A>C
NM_001146706.2:c.3110A>C NP_001140178.1:p.Asp1037Ala
NM_004653.5:c.3281A>C MANE Select NP_004644.2:p.Asp1094Ala
NM_001146705.2:c.3374A>C NP_001140177.1:p.Asp1125Ala