Canonical Allele Identifier: CA414844254
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707941C>G , CM000686.2:g.19707941C>G GRCh38
NC_000024.9:g.21869827C>G , CM000686.1:g.21869827C>G GRCh37
NC_000024.8:g.20329215C>G NCBI36
NG_032920.1:g.41999G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.3392G>C MANE Select ENSP00000322408.4:p.Gly1131Ala
ENST00000317961.8:c.3392G>C ENSP00000322408.4:p.Gly1131Ala
ENST00000382806.6:c.3221G>C ENSP00000372256.2:p.Gly1074Ala
ENST00000415360.1:c.308G>C ENSP00000389433.1:p.Gly103Ala
ENST00000440077.5:c.3269G>C ENSP00000398543.1:p.Gly1090Ala
ENST00000469599.6:n.1990G>C
ENST00000492117.1:n.3284G>C
ENST00000541639.5:c.3485G>C ENSP00000444293.1:p.Gly1162Ala
NM_001146705.1:c.3485G>C NP_001140177.1:p.Gly1162Ala
NM_001146706.1:c.3221G>C NP_001140178.1:p.Gly1074Ala
NM_004653.4:c.3392G>C NP_004644.2:p.Gly1131Ala
XM_005262560.1:c.3257G>C XP_005262617.1:p.Gly1086Ala
XM_005262561.1:c.3161G>C XP_005262618.1:p.Gly1054Ala
XM_011531468.1:c.3314G>C XP_011529770.1:p.Gly1105Ala
XR_244571.2:n.3680G>C
XR_430568.2:n.4014G>C
XM_005262560.3:c.3257G>C XP_005262617.1:p.Gly1086Ala
XM_005262561.3:c.3161G>C XP_005262618.1:p.Gly1054Ala
XM_011531468.3:c.3314G>C XP_011529770.1:p.Gly1105Ala
XM_024452495.1:c.1382G>C XP_024308263.1:p.Gly461Ala
XM_024452496.1:c.1148G>C XP_024308264.1:p.Gly383Ala
XR_001756009.2:n.4130G>C
XR_001756010.2:n.4130G>C
XR_001756011.2:n.3995G>C
XR_001756012.2:n.4143G>C
XR_001756013.2:n.3461G>C
XR_002958832.1:n.3562G>C
XR_002958834.1:n.3786G>C
XR_002958835.1:n.3669G>C
XR_002958836.1:n.4352G>C
XR_002958837.1:n.4159G>C
XR_244571.4:n.3679G>C
XR_430568.4:n.4013G>C
NM_001146706.2:c.3221G>C NP_001140178.1:p.Gly1074Ala
NM_004653.5:c.3392G>C MANE Select NP_004644.2:p.Gly1131Ala
NM_001146705.2:c.3485G>C NP_001140177.1:p.Gly1162Ala