Canonical Allele Identifier: CA10574748

Gene: KDM5D

Linked Data

• dbSNP Id: rs761610918
• ExAC: Y:21869578 G / A
• gnomAD v2: Y-21869578-G-A
• COSMIC: COSM5564220
• MyVariant Identifiers: chrY:g.21869578G>A (hg19) ; chrY:g.19707692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707692G>A , CM000686.2:g.19707692G>A	GRCh38
NC_000024.9:g.21869578G>A , CM000686.1:g.21869578G>A	GRCh37
NC_000024.8:g.20328966G>A	NCBI36
NG_032920.1:g.42248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3454C>T MANE Select	ENSP00000322408.4:p.Arg1152Cys
ENST00000317961.8:c.3454C>T	ENSP00000322408.4:p.Arg1152Cys
ENST00000382806.6:c.3283C>T	ENSP00000372256.2:p.Arg1095Cys
ENST00000415360.1:c.370C>T	ENSP00000389433.1:p.Arg124Cys
ENST00000440077.5:c.3331C>T	ENSP00000398543.1:p.Arg1111Cys
ENST00000469599.6:n.2052C>T
ENST00000492117.1:n.3346C>T
ENST00000541639.5:c.3547C>T	ENSP00000444293.1:p.Arg1183Cys
NM_001146705.1:c.3547C>T	NP_001140177.1:p.Arg1183Cys
NM_001146706.1:c.3283C>T	NP_001140178.1:p.Arg1095Cys
NM_004653.4:c.3454C>T	NP_004644.2:p.Arg1152Cys
XM_005262560.1:c.3319C>T	XP_005262617.1:p.Arg1107Cys
XM_005262561.1:c.3223C>T	XP_005262618.1:p.Arg1075Cys
XM_011531468.1:c.3376C>T	XP_011529770.1:p.Arg1126Cys
XR_244571.2:n.3742C>T
XR_430568.2:n.4076C>T
XM_005262560.3:c.3319C>T	XP_005262617.1:p.Arg1107Cys
XM_005262561.3:c.3223C>T	XP_005262618.1:p.Arg1075Cys
XM_011531468.3:c.3376C>T	XP_011529770.1:p.Arg1126Cys
XM_024452495.1:c.1444C>T	XP_024308263.1:p.Arg482Cys
XM_024452496.1:c.1210C>T	XP_024308264.1:p.Arg404Cys
XR_001756009.2:n.4192C>T
XR_001756010.2:n.4192C>T
XR_001756011.2:n.4057C>T
XR_001756012.2:n.4205C>T
XR_001756013.2:n.3523C>T
XR_002958832.1:n.3624C>T
XR_002958834.1:n.3848C>T
XR_002958835.1:n.3731C>T
XR_002958836.1:n.4414C>T
XR_002958837.1:n.4221C>T
XR_244571.4:n.3741C>T
XR_430568.4:n.4075C>T
NM_001146706.2:c.3283C>T	NP_001140178.1:p.Arg1095Cys
NM_004653.5:c.3454C>T MANE Select	NP_004644.2:p.Arg1152Cys
NM_001146705.2:c.3547C>T	NP_001140177.1:p.Arg1183Cys