Canonical Allele Identifier: CA519231797

Gene: SSR4

Linked Data

• dbSNP Id: rs1182663817
• gnomAD v3: X-153798073-T-C
• gnomAD v4: X-153798073-T-C
• MyVariant Identifiers: chrX:g.153063528T>C (hg19) ; chrX:g.153798073T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798073T>C , CM000685.2:g.153798073T>C	GRCh38
NC_000023.10:g.153063528T>C , CM000685.1:g.153063528T>C	GRCh37
NC_000023.9:g.152716722T>C	NCBI36
NG_041795.1:g.8899T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.354T>C MANE Select	ENSP00000359103.3:p.Ala118=
ENST00000320857.7:c.354T>C	ENSP00000317331.3:p.Ala118=
ENST00000370085.3:c.279T>C	ENSP00000359102.3:p.Ala93=
ENST00000370086.7:c.354T>C	ENSP00000359103.3:p.Ala118=
ENST00000370087.5:c.354T>C	ENSP00000359104.1:p.Ala118=
ENST00000447375.1:n.194T>C
ENST00000460616.5:n.2062T>C
ENST00000471880.5:n.557T>C
ENST00000482902.5:n.2181T>C
ENST00000485612.5:n.469T>C
ENST00000486204.5:n.426T>C
NM_001204526.1:c.387T>C	NP_001191455.1:p.Ala129=
NM_001204527.1:c.378T>C	NP_001191456.1:p.Ala126=
NM_006280.2:c.354T>C	NP_006271.1:p.Ala118=
NR_037927.1:n.699T>C
XM_011531186.1:c.354T>C	XP_011529488.1:p.Ala118=
XM_011531187.1:c.354T>C	XP_011529489.1:p.Ala118=
XM_017029756.1:c.165T>C	XP_016885245.1:p.Ala55=
XM_017029757.1:c.165T>C	XP_016885246.1:p.Ala55=
XM_024452428.1:c.165T>C	XP_024308196.1:p.Ala55=
NM_001204527.2:c.378T>C	NP_001191456.1:p.Ala126=
NM_006280.3:c.354T>C MANE Select	NP_006271.1:p.Ala118=