Canonical Allele Identifier: CA10553367

Gene: SSR4

Linked Data

• ClinVar Variation Id: 971849
• ClinVar RCV Id: RCV001247729 ; RCV004034902
• dbSNP Id: rs148637748
• ExAC: X:153063580 G / A
• gnomAD v2: X-153063580-G-A
• gnomAD v3: X-153798125-G-A
• gnomAD v4: X-153798125-G-A
• MyVariant Identifiers: chrX:g.153063580G>A (hg19) ; chrX:g.153798125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798125G>A , CM000685.2:g.153798125G>A	GRCh38
NC_000023.10:g.153063580G>A , CM000685.1:g.153063580G>A	GRCh37
NC_000023.9:g.152716774G>A	NCBI36
NG_041795.1:g.8951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.406G>A MANE Select	ENSP00000359103.3:p.Val136Met
ENST00000320857.7:c.406G>A	ENSP00000317331.3:p.Val136Met
ENST00000370085.3:c.331G>A	ENSP00000359102.3:p.Val111Met
ENST00000370086.7:c.406G>A	ENSP00000359103.3:p.Val136Met
ENST00000370087.5:c.406G>A	ENSP00000359104.1:p.Val136Met
ENST00000447375.1:n.246G>A
ENST00000460616.5:n.2114G>A
ENST00000471880.5:n.609G>A
ENST00000482902.5:n.2233G>A
ENST00000485612.5:n.521G>A
ENST00000486204.5:n.478G>A
NM_001204526.1:c.439G>A	NP_001191455.1:p.Val147Met
NM_001204527.1:c.430G>A	NP_001191456.1:p.Val144Met
NM_006280.2:c.406G>A	NP_006271.1:p.Val136Met
NR_037927.1:n.751G>A
XM_011531186.1:c.406G>A	XP_011529488.1:p.Val136Met
XM_011531187.1:c.406G>A	XP_011529489.1:p.Val136Met
XM_017029756.1:c.217G>A	XP_016885245.1:p.Val73Met
XM_017029757.1:c.217G>A	XP_016885246.1:p.Val73Met
XM_024452428.1:c.217G>A	XP_024308196.1:p.Val73Met
NM_001204527.2:c.430G>A	NP_001191456.1:p.Val144Met
NM_006280.3:c.406G>A MANE Select	NP_006271.1:p.Val136Met