Canonical Allele Identifier: CA395990279

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1402444800
• gnomAD v2: 16-56917970-C-A
• gnomAD v4: 16-56884058-C-A
• COSMIC: COSM6144764
• MyVariant Identifiers: chr16:g.56917970C>A (hg19) ; chr16:g.56884058C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884058C>A , CM000678.2:g.56884058C>A	GRCh38
NC_000016.9:g.56917970C>A , CM000678.1:g.56917970C>A	GRCh37
NC_000016.8:g.55475471C>A	NCBI36
NG_009386.1:g.23852C>A
NG_009386.2:g.23852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1679C>A MANE Select	ENSP00000456149.2:p.Pro560His
ENST00000262502.5:c.1676C>A	ENSP00000262502.5:p.Pro559His
ENST00000438926.6:c.1679C>A	ENSP00000402152.2:p.Pro560His
ENST00000563236.5:c.1679C>A	ENSP00000456149.1:p.Pro560His
ENST00000566786.5:c.1676C>A	ENSP00000457552.1:p.Pro559His
NM_000339.2:c.1679C>A	NP_000330.2:p.Pro560His
NM_001126107.1:c.1676C>A	NP_001119579.1:p.Pro559His
NM_001126108.1:c.1679C>A	NP_001119580.1:p.Pro560His
XM_005256119.1:c.1676C>A	XP_005256176.1:p.Pro559His
XM_005256119.2:c.1676C>A	XP_005256176.1:p.Pro559His
NM_000339.3:c.1679C>A	NP_000330.3:p.Pro560His
NM_001126107.2:c.1676C>A	NP_001119579.2:p.Pro559His
NM_001126108.2:c.1679C>A MANE Select	NP_001119580.2:p.Pro560His