Canonical Allele Identifier: CA415186981

Gene: SSR4

Linked Data

• gnomAD v4: X-153798087-A-C
• MyVariant Identifiers: chrX:g.153063542A>C (hg19) ; chrX:g.153798087A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798087A>C , CM000685.2:g.153798087A>C	GRCh38
NC_000023.10:g.153063542A>C , CM000685.1:g.153063542A>C	GRCh37
NC_000023.9:g.152716736A>C	NCBI36
NG_041795.1:g.8913A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.368A>C MANE Select	ENSP00000359103.3:p.Glu123Ala
ENST00000320857.7:c.368A>C	ENSP00000317331.3:p.Glu123Ala
ENST00000370085.3:c.293A>C	ENSP00000359102.3:p.Glu98Ala
ENST00000370086.7:c.368A>C	ENSP00000359103.3:p.Glu123Ala
ENST00000370087.5:c.368A>C	ENSP00000359104.1:p.Glu123Ala
ENST00000447375.1:n.208A>C
ENST00000460616.5:n.2076A>C
ENST00000471880.5:n.571A>C
ENST00000482902.5:n.2195A>C
ENST00000485612.5:n.483A>C
ENST00000486204.5:n.440A>C
NM_001204526.1:c.401A>C	NP_001191455.1:p.Glu134Ala
NM_001204527.1:c.392A>C	NP_001191456.1:p.Glu131Ala
NM_006280.2:c.368A>C	NP_006271.1:p.Glu123Ala
NR_037927.1:n.713A>C
XM_011531186.1:c.368A>C	XP_011529488.1:p.Glu123Ala
XM_011531187.1:c.368A>C	XP_011529489.1:p.Glu123Ala
XM_017029756.1:c.179A>C	XP_016885245.1:p.Glu60Ala
XM_017029757.1:c.179A>C	XP_016885246.1:p.Glu60Ala
XM_024452428.1:c.179A>C	XP_024308196.1:p.Glu60Ala
NM_001204527.2:c.392A>C	NP_001191456.1:p.Glu131Ala
NM_006280.3:c.368A>C MANE Select	NP_006271.1:p.Glu123Ala