Canonical Allele Identifier: CA415186973

Gene: SSR4

Linked Data

• dbSNP Id: rs1557073150
• gnomAD v2: X-153063538-A-G
• gnomAD v4: X-153798083-A-G
• MyVariant Identifiers: chrX:g.153063538A>G (hg19) ; chrX:g.153798083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798083A>G , CM000685.2:g.153798083A>G	GRCh38
NC_000023.10:g.153063538A>G , CM000685.1:g.153063538A>G	GRCh37
NC_000023.9:g.152716732A>G	NCBI36
NG_041795.1:g.8909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.364A>G MANE Select	ENSP00000359103.3:p.Asn122Asp
ENST00000320857.7:c.364A>G	ENSP00000317331.3:p.Asn122Asp
ENST00000370085.3:c.289A>G	ENSP00000359102.3:p.Asn97Asp
ENST00000370086.7:c.364A>G	ENSP00000359103.3:p.Asn122Asp
ENST00000370087.5:c.364A>G	ENSP00000359104.1:p.Asn122Asp
ENST00000447375.1:n.204A>G
ENST00000460616.5:n.2072A>G
ENST00000471880.5:n.567A>G
ENST00000482902.5:n.2191A>G
ENST00000485612.5:n.479A>G
ENST00000486204.5:n.436A>G
NM_001204526.1:c.397A>G	NP_001191455.1:p.Asn133Asp
NM_001204527.1:c.388A>G	NP_001191456.1:p.Asn130Asp
NM_006280.2:c.364A>G	NP_006271.1:p.Asn122Asp
NR_037927.1:n.709A>G
XM_011531186.1:c.364A>G	XP_011529488.1:p.Asn122Asp
XM_011531187.1:c.364A>G	XP_011529489.1:p.Asn122Asp
XM_017029756.1:c.175A>G	XP_016885245.1:p.Asn59Asp
XM_017029757.1:c.175A>G	XP_016885246.1:p.Asn59Asp
XM_024452428.1:c.175A>G	XP_024308196.1:p.Asn59Asp
NM_001204527.2:c.388A>G	NP_001191456.1:p.Asn130Asp
NM_006280.3:c.364A>G MANE Select	NP_006271.1:p.Asn122Asp