Canonical Allele Identifier: CA520514913
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21868064T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706178T>C , CM000686.2:g.19706178T>C GRCh38
NC_000024.9:g.21868064T>C , CM000686.1:g.21868064T>C GRCh37
NC_000024.8:g.20327452T>C NCBI36
NG_032920.1:g.43762A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4437A>G MANE Select ENSP00000322408.4:p.Glu1479=
ENST00000317961.8:c.4437A>G ENSP00000322408.4:p.Glu1479=
ENST00000382806.6:c.4266A>G ENSP00000372256.2:p.Glu1422=
ENST00000440077.5:c.4314A>G ENSP00000398543.1:p.Glu1438=
ENST00000469599.6:n.3188A>G
ENST00000492117.1:n.4482A>G
ENST00000541639.5:c.4530A>G ENSP00000444293.1:p.Glu1510=
NM_001146705.1:c.4530A>G NP_001140177.1:p.Glu1510=
NM_001146706.1:c.4266A>G NP_001140178.1:p.Glu1422=
NM_004653.4:c.4437A>G NP_004644.2:p.Glu1479=
XM_005262560.1:c.4302A>G XP_005262617.1:p.Glu1434=
XM_005262561.1:c.4206A>G XP_005262618.1:p.Glu1402=
XM_011531468.1:c.4359A>G XP_011529770.1:p.Glu1453=
XR_430568.2:n.5212A>G
XM_005262560.3:c.4302A>G XP_005262617.1:p.Glu1434=
XM_005262561.3:c.4206A>G XP_005262618.1:p.Glu1402=
XM_011531468.3:c.4359A>G XP_011529770.1:p.Glu1453=
XM_024452495.1:c.2427A>G XP_024308263.1:p.Glu809=
XM_024452496.1:c.2193A>G XP_024308264.1:p.Glu731=
XR_001756009.2:n.5175A>G
XR_001756010.2:n.5143A>G
XR_001756011.2:n.5040A>G
XR_001756012.2:n.5188A>G
XR_001756013.2:n.4506A>G
XR_002958832.1:n.4760A>G
XR_002958834.1:n.4831A>G
XR_002958835.1:n.4714A>G
XR_002958836.1:n.5365A>G
XR_002958837.1:n.5172A>G
XR_244571.4:n.4692A>G
XR_430568.4:n.5211A>G
NM_001146706.2:c.4266A>G NP_001140178.1:p.Glu1422=
NM_004653.5:c.4437A>G MANE Select NP_004644.2:p.Glu1479=
NM_001146705.2:c.4530A>G NP_001140177.1:p.Glu1510=