Canonical Allele Identifier: CA395997543

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1423333104
• gnomAD v2: 16-56928509-T-A
• gnomAD v4: 16-56894597-T-A
• MyVariant Identifiers: chr16:g.56928509T>A (hg19) ; chr16:g.56894597T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894597T>A , CM000678.2:g.56894597T>A	GRCh38
NC_000016.9:g.56928509T>A , CM000678.1:g.56928509T>A	GRCh37
NC_000016.8:g.55486010T>A	NCBI36
NG_009386.1:g.34391T>A
NG_009386.2:g.34391T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2588T>A MANE Select	ENSP00000456149.2:p.Val863Glu
ENST00000262502.5:c.2585T>A	ENSP00000262502.5:p.Val862Glu
ENST00000438926.6:c.2615T>A	ENSP00000402152.2:p.Val872Glu
ENST00000563236.5:c.2588T>A	ENSP00000456149.1:p.Val863Glu
ENST00000566786.5:c.2612T>A	ENSP00000457552.1:p.Val871Glu
NM_000339.2:c.2615T>A	NP_000330.2:p.Val872Glu
NM_001126107.1:c.2612T>A	NP_001119579.1:p.Val871Glu
NM_001126108.1:c.2588T>A	NP_001119580.1:p.Val863Glu
XM_005256119.1:c.2585T>A	XP_005256176.1:p.Val862Glu
XM_005256119.2:c.2585T>A	XP_005256176.1:p.Val862Glu
NM_000339.3:c.2615T>A	NP_000330.3:p.Val872Glu
NM_001126107.2:c.2612T>A	NP_001119579.2:p.Val871Glu
NM_001126108.2:c.2588T>A MANE Select	NP_001119580.2:p.Val863Glu