Canonical Allele Identifier: CA520516796

Gene: KDM5D

Linked Data

• dbSNP Id: rs1206361195
• gnomAD v2: Y-21869480-C-T
• MyVariant Identifiers: chrY:g.21869480C>T (hg19) ; chrY:g.19707594C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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