Canonical Allele Identifier: CA415187047

Gene: SSR4

Linked Data

• MyVariant Identifiers: chrX:g.153063568T>C (hg19) ; chrX:g.153798113T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798113T>C , CM000685.2:g.153798113T>C	GRCh38
NC_000023.10:g.153063568T>C , CM000685.1:g.153063568T>C	GRCh37
NC_000023.9:g.152716762T>C	NCBI36
NG_041795.1:g.8939T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.394T>C MANE Select	ENSP00000359103.3:p.Phe132Leu
ENST00000320857.7:c.394T>C	ENSP00000317331.3:p.Phe132Leu
ENST00000370085.3:c.319T>C	ENSP00000359102.3:p.Phe107Leu
ENST00000370086.7:c.394T>C	ENSP00000359103.3:p.Phe132Leu
ENST00000370087.5:c.394T>C	ENSP00000359104.1:p.Phe132Leu
ENST00000447375.1:n.234T>C
ENST00000460616.5:n.2102T>C
ENST00000471880.5:n.597T>C
ENST00000482902.5:n.2221T>C
ENST00000485612.5:n.509T>C
ENST00000486204.5:n.466T>C
NM_001204526.1:c.427T>C	NP_001191455.1:p.Phe143Leu
NM_001204527.1:c.418T>C	NP_001191456.1:p.Phe140Leu
NM_006280.2:c.394T>C	NP_006271.1:p.Phe132Leu
NR_037927.1:n.739T>C
XM_011531186.1:c.394T>C	XP_011529488.1:p.Phe132Leu
XM_011531187.1:c.394T>C	XP_011529489.1:p.Phe132Leu
XM_017029756.1:c.205T>C	XP_016885245.1:p.Phe69Leu
XM_017029757.1:c.205T>C	XP_016885246.1:p.Phe69Leu
XM_024452428.1:c.205T>C	XP_024308196.1:p.Phe69Leu
NM_001204527.2:c.418T>C	NP_001191456.1:p.Phe140Leu
NM_006280.3:c.394T>C MANE Select	NP_006271.1:p.Phe132Leu