Canonical Allele Identifier: CA520516477
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869354G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707468G>A , CM000686.2:g.19707468G>A GRCh38
NC_000024.9:g.21869354G>A , CM000686.1:g.21869354G>A GRCh37
NC_000024.8:g.20328742G>A NCBI36
NG_032920.1:g.42472C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3678C>T MANE Select ENSP00000322408.4:p.Asp1226=
ENST00000317961.8:c.3678C>T ENSP00000322408.4:p.Asp1226=
ENST00000382806.6:c.3507C>T ENSP00000372256.2:p.Asp1169=
ENST00000415360.1:c.594C>T ENSP00000389433.1:p.Asp198=
ENST00000440077.5:c.3555C>T ENSP00000398543.1:p.Asp1185=
ENST00000469599.6:n.2276C>T
ENST00000492117.1:n.3570C>T
ENST00000541639.5:c.3771C>T ENSP00000444293.1:p.Asp1257=
NM_001146705.1:c.3771C>T NP_001140177.1:p.Asp1257=
NM_001146706.1:c.3507C>T NP_001140178.1:p.Asp1169=
NM_004653.4:c.3678C>T NP_004644.2:p.Asp1226=
XM_005262560.1:c.3543C>T XP_005262617.1:p.Asp1181=
XM_005262561.1:c.3447C>T XP_005262618.1:p.Asp1149=
XM_011531468.1:c.3600C>T XP_011529770.1:p.Asp1200=
XR_244571.2:n.3966C>T
XR_430568.2:n.4300C>T
XM_005262560.3:c.3543C>T XP_005262617.1:p.Asp1181=
XM_005262561.3:c.3447C>T XP_005262618.1:p.Asp1149=
XM_011531468.3:c.3600C>T XP_011529770.1:p.Asp1200=
XM_024452495.1:c.1668C>T XP_024308263.1:p.Asp556=
XM_024452496.1:c.1434C>T XP_024308264.1:p.Asp478=
XR_001756009.2:n.4416C>T
XR_001756010.2:n.4416C>T
XR_001756011.2:n.4281C>T
XR_001756012.2:n.4429C>T
XR_001756013.2:n.3747C>T
XR_002958832.1:n.3848C>T
XR_002958834.1:n.4072C>T
XR_002958835.1:n.3955C>T
XR_002958836.1:n.4638C>T
XR_002958837.1:n.4445C>T
XR_244571.4:n.3965C>T
XR_430568.4:n.4299C>T
NM_001146706.2:c.3507C>T NP_001140178.1:p.Asp1169=
NM_004653.5:c.3678C>T MANE Select NP_004644.2:p.Asp1226=
NM_001146705.2:c.3771C>T NP_001140177.1:p.Asp1257=