Canonical Allele Identifier: CA10553365

Gene: SSR4

Linked Data

• dbSNP Id: rs782038768
• ExAC: X:153063565 C / A
• gnomAD v2: X-153063565-C-A
• gnomAD v3: X-153798110-C-A
• gnomAD v4: X-153798110-C-A
• MyVariant Identifiers: chrX:g.153063565C>A (hg19) ; chrX:g.153798110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798110C>A , CM000685.2:g.153798110C>A	GRCh38
NC_000023.10:g.153063565C>A , CM000685.1:g.153063565C>A	GRCh37
NC_000023.9:g.152716759C>A	NCBI36
NG_041795.1:g.8936C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.391C>A MANE Select	ENSP00000359103.3:p.Leu131Met
ENST00000320857.7:c.391C>A	ENSP00000317331.3:p.Leu131Met
ENST00000370085.3:c.316C>A	ENSP00000359102.3:p.Leu106Met
ENST00000370086.7:c.391C>A	ENSP00000359103.3:p.Leu131Met
ENST00000370087.5:c.391C>A	ENSP00000359104.1:p.Leu131Met
ENST00000447375.1:n.231C>A
ENST00000460616.5:n.2099C>A
ENST00000471880.5:n.594C>A
ENST00000482902.5:n.2218C>A
ENST00000485612.5:n.506C>A
ENST00000486204.5:n.463C>A
NM_001204526.1:c.424C>A	NP_001191455.1:p.Leu142Met
NM_001204527.1:c.415C>A	NP_001191456.1:p.Leu139Met
NM_006280.2:c.391C>A	NP_006271.1:p.Leu131Met
NR_037927.1:n.736C>A
XM_011531186.1:c.391C>A	XP_011529488.1:p.Leu131Met
XM_011531187.1:c.391C>A	XP_011529489.1:p.Leu131Met
XM_017029756.1:c.202C>A	XP_016885245.1:p.Leu68Met
XM_017029757.1:c.202C>A	XP_016885246.1:p.Leu68Met
XM_024452428.1:c.202C>A	XP_024308196.1:p.Leu68Met
NM_001204527.2:c.415C>A	NP_001191456.1:p.Leu139Met
NM_006280.3:c.391C>A MANE Select	NP_006271.1:p.Leu131Met