Canonical Allele Identifier: CA10574763

Gene: KDM5D

Linked Data

• dbSNP Id: rs768481960
• ExAC: Y:21869893 G / A
• gnomAD v2: Y-21869893-G-A
• gnomAD v3: Y-19708007-G-A
• gnomAD v4: Y-19708007-G-A
• COSMIC: COSM1737443
• MyVariant Identifiers: chrY:g.21869893G>A (hg19) ; chrY:g.19708007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708007G>A , CM000686.2:g.19708007G>A	GRCh38
NC_000024.9:g.21869893G>A , CM000686.1:g.21869893G>A	GRCh37
NC_000024.8:g.20329281G>A	NCBI36
NG_032920.1:g.41933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3326C>T MANE Select	ENSP00000322408.4:p.Ala1109Val
ENST00000317961.8:c.3326C>T	ENSP00000322408.4:p.Ala1109Val
ENST00000382806.6:c.3155C>T	ENSP00000372256.2:p.Ala1052Val
ENST00000415360.1:c.242C>T	ENSP00000389433.1:p.Ala81Val
ENST00000440077.5:c.3203C>T	ENSP00000398543.1:p.Ala1068Val
ENST00000469599.6:n.1924C>T
ENST00000492117.1:n.3218C>T
ENST00000541639.5:c.3419C>T	ENSP00000444293.1:p.Ala1140Val
NM_001146705.1:c.3419C>T	NP_001140177.1:p.Ala1140Val
NM_001146706.1:c.3155C>T	NP_001140178.1:p.Ala1052Val
NM_004653.4:c.3326C>T	NP_004644.2:p.Ala1109Val
XM_005262560.1:c.3191C>T	XP_005262617.1:p.Ala1064Val
XM_005262561.1:c.3095C>T	XP_005262618.1:p.Ala1032Val
XM_011531468.1:c.3248C>T	XP_011529770.1:p.Ala1083Val
XR_244571.2:n.3614C>T
XR_430568.2:n.3948C>T
XM_005262560.3:c.3191C>T	XP_005262617.1:p.Ala1064Val
XM_005262561.3:c.3095C>T	XP_005262618.1:p.Ala1032Val
XM_011531468.3:c.3248C>T	XP_011529770.1:p.Ala1083Val
XM_024452495.1:c.1316C>T	XP_024308263.1:p.Ala439Val
XM_024452496.1:c.1082C>T	XP_024308264.1:p.Ala361Val
XR_001756009.2:n.4064C>T
XR_001756010.2:n.4064C>T
XR_001756011.2:n.3929C>T
XR_001756012.2:n.4077C>T
XR_001756013.2:n.3395C>T
XR_002958832.1:n.3496C>T
XR_002958834.1:n.3720C>T
XR_002958835.1:n.3603C>T
XR_002958836.1:n.4286C>T
XR_002958837.1:n.4093C>T
XR_244571.4:n.3613C>T
XR_430568.4:n.3947C>T
NM_001146706.2:c.3155C>T	NP_001140178.1:p.Ala1052Val
NM_004653.5:c.3326C>T MANE Select	NP_004644.2:p.Ala1109Val
NM_001146705.2:c.3419C>T	NP_001140177.1:p.Ala1140Val