Canonical Allele Identifier: CA415187008

Gene: SSR4

Linked Data

• MyVariant Identifiers: chrX:g.153063554T>C (hg19) ; chrX:g.153798099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798099T>C , CM000685.2:g.153798099T>C	GRCh38
NC_000023.10:g.153063554T>C , CM000685.1:g.153063554T>C	GRCh37
NC_000023.9:g.152716748T>C	NCBI36
NG_041795.1:g.8925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.380T>C MANE Select	ENSP00000359103.3:p.Ile127Thr
ENST00000320857.7:c.380T>C	ENSP00000317331.3:p.Ile127Thr
ENST00000370085.3:c.305T>C	ENSP00000359102.3:p.Ile102Thr
ENST00000370086.7:c.380T>C	ENSP00000359103.3:p.Ile127Thr
ENST00000370087.5:c.380T>C	ENSP00000359104.1:p.Ile127Thr
ENST00000447375.1:n.220T>C
ENST00000460616.5:n.2088T>C
ENST00000471880.5:n.583T>C
ENST00000482902.5:n.2207T>C
ENST00000485612.5:n.495T>C
ENST00000486204.5:n.452T>C
NM_001204526.1:c.413T>C	NP_001191455.1:p.Ile138Thr
NM_001204527.1:c.404T>C	NP_001191456.1:p.Ile135Thr
NM_006280.2:c.380T>C	NP_006271.1:p.Ile127Thr
NR_037927.1:n.725T>C
XM_011531186.1:c.380T>C	XP_011529488.1:p.Ile127Thr
XM_011531187.1:c.380T>C	XP_011529489.1:p.Ile127Thr
XM_017029756.1:c.191T>C	XP_016885245.1:p.Ile64Thr
XM_017029757.1:c.191T>C	XP_016885246.1:p.Ile64Thr
XM_024452428.1:c.191T>C	XP_024308196.1:p.Ile64Thr
NM_001204527.2:c.404T>C	NP_001191456.1:p.Ile135Thr
NM_006280.3:c.380T>C MANE Select	NP_006271.1:p.Ile127Thr