Canonical Allele Identifier: CA10553366

Gene: SSR4

Linked Data

• dbSNP Id: rs782054895
• ExAC: X:153063579 C / T
• gnomAD v2: X-153063579-C-T
• gnomAD v3: X-153798124-C-T
• gnomAD v4: X-153798124-C-T
• MyVariant Identifiers: chrX:g.153063579C>T (hg19) ; chrX:g.153798124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798124C>T , CM000685.2:g.153798124C>T	GRCh38
NC_000023.10:g.153063579C>T , CM000685.1:g.153063579C>T	GRCh37
NC_000023.9:g.152716773C>T	NCBI36
NG_041795.1:g.8950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.405C>T MANE Select	ENSP00000359103.3:p.Ser135=
ENST00000320857.7:c.405C>T	ENSP00000317331.3:p.Ser135=
ENST00000370085.3:c.330C>T	ENSP00000359102.3:p.Ser110=
ENST00000370086.7:c.405C>T	ENSP00000359103.3:p.Ser135=
ENST00000370087.5:c.405C>T	ENSP00000359104.1:p.Ser135=
ENST00000447375.1:n.245C>T
ENST00000460616.5:n.2113C>T
ENST00000471880.5:n.608C>T
ENST00000482902.5:n.2232C>T
ENST00000485612.5:n.520C>T
ENST00000486204.5:n.477C>T
NM_001204526.1:c.438C>T	NP_001191455.1:p.Ser146=
NM_001204527.1:c.429C>T	NP_001191456.1:p.Ser143=
NM_006280.2:c.405C>T	NP_006271.1:p.Ser135=
NR_037927.1:n.750C>T
XM_011531186.1:c.405C>T	XP_011529488.1:p.Ser135=
XM_011531187.1:c.405C>T	XP_011529489.1:p.Ser135=
XM_017029756.1:c.216C>T	XP_016885245.1:p.Ser72=
XM_017029757.1:c.216C>T	XP_016885246.1:p.Ser72=
XM_024452428.1:c.216C>T	XP_024308196.1:p.Ser72=
NM_001204527.2:c.429C>T	NP_001191456.1:p.Ser143=
NM_006280.3:c.405C>T MANE Select	NP_006271.1:p.Ser135=