Canonical Allele Identifier: CA415187104

Gene: SSR4

Linked Data

• ClinVar Variation Id: 1717025
• ClinVar RCV Id: RCV002296214
• gnomAD v4: X-153798128-G-A
• MyVariant Identifiers: chrX:g.153063583G>A (hg19) ; chrX:g.153798128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798128G>A , CM000685.2:g.153798128G>A	GRCh38
NC_000023.10:g.153063583G>A , CM000685.1:g.153063583G>A	GRCh37
NC_000023.9:g.152716777G>A	NCBI36
NG_041795.1:g.8954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.409G>A MANE Select	ENSP00000359103.3:p.Asp137Asn
ENST00000320857.7:c.409G>A	ENSP00000317331.3:p.Asp137Asn
ENST00000370085.3:c.334G>A	ENSP00000359102.3:p.Asp112Asn
ENST00000370086.7:c.409G>A	ENSP00000359103.3:p.Asp137Asn
ENST00000370087.5:c.409G>A	ENSP00000359104.1:p.Asp137Asn
ENST00000447375.1:n.249G>A
ENST00000460616.5:n.2117G>A
ENST00000471880.5:n.612G>A
ENST00000482902.5:n.2236G>A
ENST00000485612.5:n.524G>A
ENST00000486204.5:n.481G>A
NM_001204526.1:c.442G>A	NP_001191455.1:p.Asp148Asn
NM_001204527.1:c.433G>A	NP_001191456.1:p.Asp145Asn
NM_006280.2:c.409G>A	NP_006271.1:p.Asp137Asn
NR_037927.1:n.754G>A
XM_011531186.1:c.409G>A	XP_011529488.1:p.Asp137Asn
XM_011531187.1:c.409G>A	XP_011529489.1:p.Asp137Asn
XM_017029756.1:c.220G>A	XP_016885245.1:p.Asp74Asn
XM_017029757.1:c.220G>A	XP_016885246.1:p.Asp74Asn
XM_024452428.1:c.220G>A	XP_024308196.1:p.Asp74Asn
NM_001204527.2:c.433G>A	NP_001191456.1:p.Asp145Asn
NM_006280.3:c.409G>A MANE Select	NP_006271.1:p.Asp137Asn