Canonical Allele Identifier: CA415187125

Gene: SSR4

Linked Data

• dbSNP Id: rs1557073224
• gnomAD v2: X-153063589-C-T
• gnomAD v4: X-153798134-C-T
• COSMIC: COSM5910096
• MyVariant Identifiers: chrX:g.153063589C>T (hg19) ; chrX:g.153798134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798134C>T , CM000685.2:g.153798134C>T	GRCh38
NC_000023.10:g.153063589C>T , CM000685.1:g.153063589C>T	GRCh37
NC_000023.9:g.152716783C>T	NCBI36
NG_041795.1:g.8960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.415C>T MANE Select	ENSP00000359103.3:p.Arg139Trp
ENST00000320857.7:c.415C>T	ENSP00000317331.3:p.Arg139Trp
ENST00000370085.3:c.340C>T	ENSP00000359102.3:p.Arg114Trp
ENST00000370086.7:c.415C>T	ENSP00000359103.3:p.Arg139Trp
ENST00000370087.5:c.415C>T	ENSP00000359104.1:p.Arg139Trp
ENST00000447375.1:n.255C>T
ENST00000460616.5:n.2123C>T
ENST00000471880.5:n.618C>T
ENST00000482902.5:n.2242C>T
ENST00000485612.5:n.530C>T
ENST00000486204.5:n.487C>T
NM_001204526.1:c.448C>T	NP_001191455.1:p.Arg150Trp
NM_001204527.1:c.439C>T	NP_001191456.1:p.Arg147Trp
NM_006280.2:c.415C>T	NP_006271.1:p.Arg139Trp
NR_037927.1:n.760C>T
XM_011531186.1:c.415C>T	XP_011529488.1:p.Arg139Trp
XM_011531187.1:c.415C>T	XP_011529489.1:p.Arg139Trp
XM_017029756.1:c.226C>T	XP_016885245.1:p.Arg76Trp
XM_017029757.1:c.226C>T	XP_016885246.1:p.Arg76Trp
XM_024452428.1:c.226C>T	XP_024308196.1:p.Arg76Trp
NM_001204527.2:c.439C>T	NP_001191456.1:p.Arg147Trp
NM_006280.3:c.415C>T MANE Select	NP_006271.1:p.Arg139Trp