Canonical Allele Identifier: CA520516794
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869480C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707594C>A , CM000686.2:g.19707594C>A GRCh38
NC_000024.9:g.21869480C>A , CM000686.1:g.21869480C>A GRCh37
NC_000024.8:g.20328868C>A NCBI36
NG_032920.1:g.42346G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3552G>T MANE Select ENSP00000322408.4:p.Val1184=
ENST00000317961.8:c.3552G>T ENSP00000322408.4:p.Val1184=
ENST00000382806.6:c.3381G>T ENSP00000372256.2:p.Val1127=
ENST00000415360.1:c.468G>T ENSP00000389433.1:p.Val156=
ENST00000440077.5:c.3429G>T ENSP00000398543.1:p.Val1143=
ENST00000469599.6:n.2150G>T
ENST00000492117.1:n.3444G>T
ENST00000541639.5:c.3645G>T ENSP00000444293.1:p.Val1215=
NM_001146705.1:c.3645G>T NP_001140177.1:p.Val1215=
NM_001146706.1:c.3381G>T NP_001140178.1:p.Val1127=
NM_004653.4:c.3552G>T NP_004644.2:p.Val1184=
XM_005262560.1:c.3417G>T XP_005262617.1:p.Val1139=
XM_005262561.1:c.3321G>T XP_005262618.1:p.Val1107=
XM_011531468.1:c.3474G>T XP_011529770.1:p.Val1158=
XR_244571.2:n.3840G>T
XR_430568.2:n.4174G>T
XM_005262560.3:c.3417G>T XP_005262617.1:p.Val1139=
XM_005262561.3:c.3321G>T XP_005262618.1:p.Val1107=
XM_011531468.3:c.3474G>T XP_011529770.1:p.Val1158=
XM_024452495.1:c.1542G>T XP_024308263.1:p.Val514=
XM_024452496.1:c.1308G>T XP_024308264.1:p.Val436=
XR_001756009.2:n.4290G>T
XR_001756010.2:n.4290G>T
XR_001756011.2:n.4155G>T
XR_001756012.2:n.4303G>T
XR_001756013.2:n.3621G>T
XR_002958832.1:n.3722G>T
XR_002958834.1:n.3946G>T
XR_002958835.1:n.3829G>T
XR_002958836.1:n.4512G>T
XR_002958837.1:n.4319G>T
XR_244571.4:n.3839G>T
XR_430568.4:n.4173G>T
NM_001146706.2:c.3381G>T NP_001140178.1:p.Val1127=
NM_004653.5:c.3552G>T MANE Select NP_004644.2:p.Val1184=
NM_001146705.2:c.3645G>T NP_001140177.1:p.Val1215=