Canonical Allele Identifier: CA10553364

Gene: SSR4

Linked Data

• ClinVar Variation Id: 2201570
• ClinVar RCV Id: RCV002629727
• dbSNP Id: rs782786758
• ExAC: X:153063561 G / A
• gnomAD v2: X-153063561-G-A
• gnomAD v4: X-153798106-G-A
• COSMIC: COSM5064526
• MyVariant Identifiers: chrX:g.153063561G>A (hg19) ; chrX:g.153798106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798106G>A , CM000685.2:g.153798106G>A	GRCh38
NC_000023.10:g.153063561G>A , CM000685.1:g.153063561G>A	GRCh37
NC_000023.9:g.152716755G>A	NCBI36
NG_041795.1:g.8932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.387G>A MANE Select	ENSP00000359103.3:p.Pro129=
ENST00000320857.7:c.387G>A	ENSP00000317331.3:p.Pro129=
ENST00000370085.3:c.312G>A	ENSP00000359102.3:p.Pro104=
ENST00000370086.7:c.387G>A	ENSP00000359103.3:p.Pro129=
ENST00000370087.5:c.387G>A	ENSP00000359104.1:p.Pro129=
ENST00000447375.1:n.227G>A
ENST00000460616.5:n.2095G>A
ENST00000471880.5:n.590G>A
ENST00000482902.5:n.2214G>A
ENST00000485612.5:n.502G>A
ENST00000486204.5:n.459G>A
NM_001204526.1:c.420G>A	NP_001191455.1:p.Pro140=
NM_001204527.1:c.411G>A	NP_001191456.1:p.Pro137=
NM_006280.2:c.387G>A	NP_006271.1:p.Pro129=
NR_037927.1:n.732G>A
XM_011531186.1:c.387G>A	XP_011529488.1:p.Pro129=
XM_011531187.1:c.387G>A	XP_011529489.1:p.Pro129=
XM_017029756.1:c.198G>A	XP_016885245.1:p.Pro66=
XM_017029757.1:c.198G>A	XP_016885246.1:p.Pro66=
XM_024452428.1:c.198G>A	XP_024308196.1:p.Pro66=
NM_001204527.2:c.411G>A	NP_001191456.1:p.Pro137=
NM_006280.3:c.387G>A MANE Select	NP_006271.1:p.Pro129=