Canonical Allele Identifier: CA519232837

Gene: SSR4

Linked Data

• dbSNP Id: rs1237729564
• gnomAD v2: X-153063591-G-C
• gnomAD v3: X-153798136-G-C
• gnomAD v4: X-153798136-G-C
• MyVariant Identifiers: chrX:g.153063591G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798136G>C , CM000685.2:g.153798136G>C	GRCh38
NC_000023.10:g.153063591G>C , CM000685.1:g.153063591G>C	GRCh37
NC_000023.9:g.152716785G>C	NCBI36
NG_041795.1:g.8962G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.417G>C MANE Select	ENSP00000359103.3:p.Arg139=
ENST00000320857.7:c.417G>C	ENSP00000317331.3:p.Arg139=
ENST00000370085.3:c.342G>C	ENSP00000359102.3:p.Arg114=
ENST00000370086.7:c.417G>C	ENSP00000359103.3:p.Arg139=
ENST00000370087.5:c.417G>C	ENSP00000359104.1:p.Arg139=
ENST00000447375.1:n.257G>C
ENST00000460616.5:n.2125G>C
ENST00000471880.5:n.620G>C
ENST00000482902.5:n.2244G>C
ENST00000485612.5:n.532G>C
ENST00000486204.5:n.489G>C
NM_001204526.1:c.450G>C	NP_001191455.1:p.Arg150=
NM_001204527.1:c.441G>C	NP_001191456.1:p.Arg147=
NM_006280.2:c.417G>C	NP_006271.1:p.Arg139=
NR_037927.1:n.762G>C
XM_011531186.1:c.417G>C	XP_011529488.1:p.Arg139=
XM_011531187.1:c.417G>C	XP_011529489.1:p.Arg139=
XM_017029756.1:c.228G>C	XP_016885245.1:p.Arg76=
XM_017029757.1:c.228G>C	XP_016885246.1:p.Arg76=
XM_024452428.1:c.228G>C	XP_024308196.1:p.Arg76=
NM_001204527.2:c.441G>C	NP_001191456.1:p.Arg147=
NM_006280.3:c.417G>C MANE Select	NP_006271.1:p.Arg139=