Canonical Allele Identifier: CA415187043

Gene: SSR4

Linked Data

• MyVariant Identifiers: chrX:g.153063566T>G (hg19) ; chrX:g.153798111T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798111T>G , CM000685.2:g.153798111T>G	GRCh38
NC_000023.10:g.153063566T>G , CM000685.1:g.153063566T>G	GRCh37
NC_000023.9:g.152716760T>G	NCBI36
NG_041795.1:g.8937T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.392T>G MANE Select	ENSP00000359103.3:p.Leu131Arg
ENST00000320857.7:c.392T>G	ENSP00000317331.3:p.Leu131Arg
ENST00000370085.3:c.317T>G	ENSP00000359102.3:p.Leu106Arg
ENST00000370086.7:c.392T>G	ENSP00000359103.3:p.Leu131Arg
ENST00000370087.5:c.392T>G	ENSP00000359104.1:p.Leu131Arg
ENST00000447375.1:n.232T>G
ENST00000460616.5:n.2100T>G
ENST00000471880.5:n.595T>G
ENST00000482902.5:n.2219T>G
ENST00000485612.5:n.507T>G
ENST00000486204.5:n.464T>G
NM_001204526.1:c.425T>G	NP_001191455.1:p.Leu142Arg
NM_001204527.1:c.416T>G	NP_001191456.1:p.Leu139Arg
NM_006280.2:c.392T>G	NP_006271.1:p.Leu131Arg
NR_037927.1:n.737T>G
XM_011531186.1:c.392T>G	XP_011529488.1:p.Leu131Arg
XM_011531187.1:c.392T>G	XP_011529489.1:p.Leu131Arg
XM_017029756.1:c.203T>G	XP_016885245.1:p.Leu68Arg
XM_017029757.1:c.203T>G	XP_016885246.1:p.Leu68Arg
XM_024452428.1:c.203T>G	XP_024308196.1:p.Leu68Arg
NM_001204527.2:c.416T>G	NP_001191456.1:p.Leu139Arg
NM_006280.3:c.392T>G MANE Select	NP_006271.1:p.Leu131Arg