Canonical Allele Identifier: CA520514676
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21868019C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706133C>A , CM000686.2:g.19706133C>A GRCh38
NC_000024.9:g.21868019C>A , CM000686.1:g.21868019C>A GRCh37
NC_000024.8:g.20327407C>A NCBI36
NG_032920.1:g.43807G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4482G>T MANE Select ENSP00000322408.4:p.Leu1494=
ENST00000317961.8:c.4482G>T ENSP00000322408.4:p.Leu1494=
ENST00000382806.6:c.4311G>T ENSP00000372256.2:p.Leu1437=
ENST00000440077.5:c.4359G>T ENSP00000398543.1:p.Leu1453=
ENST00000469599.6:n.3233G>T
ENST00000492117.1:n.4527G>T
ENST00000541639.5:c.4575G>T ENSP00000444293.1:p.Leu1525=
NM_001146705.1:c.4575G>T NP_001140177.1:p.Leu1525=
NM_001146706.1:c.4311G>T NP_001140178.1:p.Leu1437=
NM_004653.4:c.4482G>T NP_004644.2:p.Leu1494=
XM_005262560.1:c.4347G>T XP_005262617.1:p.Leu1449=
XM_005262561.1:c.4251G>T XP_005262618.1:p.Leu1417=
XM_011531468.1:c.4404G>T XP_011529770.1:p.Leu1468=
XR_430568.2:n.5257G>T
XM_005262560.3:c.4347G>T XP_005262617.1:p.Leu1449=
XM_005262561.3:c.4251G>T XP_005262618.1:p.Leu1417=
XM_011531468.3:c.4404G>T XP_011529770.1:p.Leu1468=
XM_024452495.1:c.2472G>T XP_024308263.1:p.Leu824=
XM_024452496.1:c.2238G>T XP_024308264.1:p.Leu746=
XR_001756009.2:n.5220G>T
XR_001756010.2:n.5188G>T
XR_001756011.2:n.5085G>T
XR_001756012.2:n.5233G>T
XR_001756013.2:n.4551G>T
XR_002958832.1:n.4805G>T
XR_002958834.1:n.4876G>T
XR_002958835.1:n.4759G>T
XR_002958836.1:n.5410G>T
XR_002958837.1:n.5217G>T
XR_244571.4:n.4737G>T
XR_430568.4:n.5256G>T
NM_001146706.2:c.4311G>T NP_001140178.1:p.Leu1437=
NM_004653.5:c.4482G>T MANE Select NP_004644.2:p.Leu1494=
NM_001146705.2:c.4575G>T NP_001140177.1:p.Leu1525=