Canonical Allele Identifier: CA281497072

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2223652
• ClinVar RCV Id: RCV002691672
• dbSNP Id: rs1051681930
• gnomAD v2: 16-56904599-T-A
• gnomAD v3: 16-56870687-T-A
• gnomAD v4: 16-56870687-T-A
• MyVariant Identifiers: chr16:g.56904599T>A (hg19) ; chr16:g.56870687T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870687T>A , CM000678.2:g.56870687T>A	GRCh38
NC_000016.9:g.56904599T>A , CM000678.1:g.56904599T>A	GRCh37
NC_000016.8:g.55462100T>A	NCBI36
NG_009386.1:g.10481T>A
NG_009386.2:g.10481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.803T>A MANE Select	ENSP00000456149.2:p.Val268Asp
ENST00000262502.5:c.800T>A	ENSP00000262502.5:p.Val267Asp
ENST00000438926.6:c.803T>A	ENSP00000402152.2:p.Val268Asp
ENST00000563236.5:c.803T>A	ENSP00000456149.1:p.Val268Asp
ENST00000566786.5:c.800T>A	ENSP00000457552.1:p.Val267Asp
NM_000339.2:c.803T>A	NP_000330.2:p.Val268Asp
NM_001126107.1:c.800T>A	NP_001119579.1:p.Val267Asp
NM_001126108.1:c.803T>A	NP_001119580.1:p.Val268Asp
XM_005256119.1:c.800T>A	XP_005256176.1:p.Val267Asp
XM_005256119.2:c.800T>A	XP_005256176.1:p.Val267Asp
NM_000339.3:c.803T>A	NP_000330.3:p.Val268Asp
NM_001126107.2:c.800T>A	NP_001119579.2:p.Val267Asp
NM_001126108.2:c.803T>A MANE Select	NP_001119580.2:p.Val268Asp