Canonical Allele Identifier: CA520516447
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869321T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707435T>A , CM000686.2:g.19707435T>A GRCh38
NC_000024.9:g.21869321T>A , CM000686.1:g.21869321T>A GRCh37
NC_000024.8:g.20328709T>A NCBI36
NG_032920.1:g.42505A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3711A>T MANE Select ENSP00000322408.4:p.Ser1237=
ENST00000317961.8:c.3711A>T ENSP00000322408.4:p.Ser1237=
ENST00000382806.6:c.3540A>T ENSP00000372256.2:p.Ser1180=
ENST00000415360.1:c.627A>T ENSP00000389433.1:p.Ser209=
ENST00000440077.5:c.3588A>T ENSP00000398543.1:p.Ser1196=
ENST00000469599.6:n.2309A>T
ENST00000492117.1:n.3603A>T
ENST00000541639.5:c.3804A>T ENSP00000444293.1:p.Ser1268=
NM_001146705.1:c.3804A>T NP_001140177.1:p.Ser1268=
NM_001146706.1:c.3540A>T NP_001140178.1:p.Ser1180=
NM_004653.4:c.3711A>T NP_004644.2:p.Ser1237=
XM_005262560.1:c.3576A>T XP_005262617.1:p.Ser1192=
XM_005262561.1:c.3480A>T XP_005262618.1:p.Ser1160=
XM_011531468.1:c.3633A>T XP_011529770.1:p.Ser1211=
XR_244571.2:n.3999A>T
XR_430568.2:n.4333A>T
XM_005262560.3:c.3576A>T XP_005262617.1:p.Ser1192=
XM_005262561.3:c.3480A>T XP_005262618.1:p.Ser1160=
XM_011531468.3:c.3633A>T XP_011529770.1:p.Ser1211=
XM_024452495.1:c.1701A>T XP_024308263.1:p.Ser567=
XM_024452496.1:c.1467A>T XP_024308264.1:p.Ser489=
XR_001756009.2:n.4449A>T
XR_001756010.2:n.4449A>T
XR_001756011.2:n.4314A>T
XR_001756012.2:n.4462A>T
XR_001756013.2:n.3780A>T
XR_002958832.1:n.3881A>T
XR_002958834.1:n.4105A>T
XR_002958835.1:n.3988A>T
XR_002958836.1:n.4671A>T
XR_002958837.1:n.4478A>T
XR_244571.4:n.3998A>T
XR_430568.4:n.4332A>T
NM_001146706.2:c.3540A>T NP_001140178.1:p.Ser1180=
NM_004653.5:c.3711A>T MANE Select NP_004644.2:p.Ser1237=
NM_001146705.2:c.3804A>T NP_001140177.1:p.Ser1268=