Canonical Allele Identifier: CA337252301

Gene: SSR4

Linked Data

• dbSNP Id: rs992167918
• gnomAD v2: X-153063541-G-A
• gnomAD v4: X-153798086-G-A
• MyVariant Identifiers: chrX:g.153063541G>A (hg19) ; chrX:g.153798086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798086G>A , CM000685.2:g.153798086G>A	GRCh38
NC_000023.10:g.153063541G>A , CM000685.1:g.153063541G>A	GRCh37
NC_000023.9:g.152716735G>A	NCBI36
NG_041795.1:g.8912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.367G>A MANE Select	ENSP00000359103.3:p.Glu123Lys
ENST00000320857.7:c.367G>A	ENSP00000317331.3:p.Glu123Lys
ENST00000370085.3:c.292G>A	ENSP00000359102.3:p.Glu98Lys
ENST00000370086.7:c.367G>A	ENSP00000359103.3:p.Glu123Lys
ENST00000370087.5:c.367G>A	ENSP00000359104.1:p.Glu123Lys
ENST00000447375.1:n.207G>A
ENST00000460616.5:n.2075G>A
ENST00000471880.5:n.570G>A
ENST00000482902.5:n.2194G>A
ENST00000485612.5:n.482G>A
ENST00000486204.5:n.439G>A
NM_001204526.1:c.400G>A	NP_001191455.1:p.Glu134Lys
NM_001204527.1:c.391G>A	NP_001191456.1:p.Glu131Lys
NM_006280.2:c.367G>A	NP_006271.1:p.Glu123Lys
NR_037927.1:n.712G>A
XM_011531186.1:c.367G>A	XP_011529488.1:p.Glu123Lys
XM_011531187.1:c.367G>A	XP_011529489.1:p.Glu123Lys
XM_017029756.1:c.178G>A	XP_016885245.1:p.Glu60Lys
XM_017029757.1:c.178G>A	XP_016885246.1:p.Glu60Lys
XM_024452428.1:c.178G>A	XP_024308196.1:p.Glu60Lys
NM_001204527.2:c.391G>A	NP_001191456.1:p.Glu131Lys
NM_006280.3:c.367G>A MANE Select	NP_006271.1:p.Glu123Lys