Canonical Allele Identifier: CA3176084

Gene: SLC9A3

Linked Data

• ClinVar Variation Id: 1664866
• ClinVar RCV Id: RCV002191334
• dbSNP Id: rs375272660
• ExAC: 5:483387 G / A
• gnomAD v2: 5-483387-G-A
• gnomAD v3: 5-483272-G-A
• gnomAD v4: 5-483272-G-A
• MyVariant Identifiers: chr5:g.483387G>A (hg19) ; chr5:g.483272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.483272G>A , CM000667.2:g.483272G>A	GRCh38
NC_000005.9:g.483387G>A , CM000667.1:g.483387G>A	GRCh37
NC_000005.8:g.536387G>A	NCBI36
NG_046804.1:g.92157C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264938.8:c.1143C>T MANE Select	ENSP00000264938.3:p.Tyr381=
ENST00000644203.1:c.1143C>T	ENSP00000495903.1:p.Tyr381=
ENST00000264938.7:c.1143C>T	ENSP00000264938.3:p.Tyr381=
ENST00000514375.1:c.1143C>T	ENSP00000422983.1:p.Tyr381=
NM_001284351.1:c.1143C>T	NP_001271280.1:p.Tyr381=
NM_004174.2:c.1143C>T	NP_004165.2:p.Tyr381=
XM_011514095.1:c.1149C>T	XP_011512397.1:p.Tyr383=
XM_011514096.1:c.1143C>T	XP_011512398.1:p.Tyr381=
XM_011514097.1:c.1149C>T	XP_011512399.1:p.Tyr383=
XM_011514098.1:c.1149C>T	XP_011512400.1:p.Tyr383=
NM_001284351.2:c.1143C>T	NP_001271280.1:p.Tyr381=
NM_004174.3:c.1143C>T	NP_004165.2:p.Tyr381=
NM_001284351.3:c.1143C>T	NP_001271280.1:p.Tyr381=
NM_004174.4:c.1143C>T MANE Select	NP_004165.2:p.Tyr381=