Canonical Allele Identifier: CA395990646

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1350701550
• gnomAD v2: 16-56918036-T-G
• gnomAD v3: 16-56884124-T-G
• gnomAD v4: 16-56884124-T-G
• MyVariant Identifiers: chr16:g.56918036T>G (hg19) ; chr16:g.56884124T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884124T>G , CM000678.2:g.56884124T>G	GRCh38
NC_000016.9:g.56918036T>G , CM000678.1:g.56918036T>G	GRCh37
NC_000016.8:g.55475537T>G	NCBI36
NG_009386.1:g.23918T>G
NG_009386.2:g.23918T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1745T>G MANE Select	ENSP00000456149.2:p.Phe582Cys
ENST00000262502.5:c.1742T>G	ENSP00000262502.5:p.Phe581Cys
ENST00000438926.6:c.1745T>G	ENSP00000402152.2:p.Phe582Cys
ENST00000563236.5:c.1745T>G	ENSP00000456149.1:p.Phe582Cys
ENST00000566786.5:c.1742T>G	ENSP00000457552.1:p.Phe581Cys
NM_000339.2:c.1745T>G	NP_000330.2:p.Phe582Cys
NM_001126107.1:c.1742T>G	NP_001119579.1:p.Phe581Cys
NM_001126108.1:c.1745T>G	NP_001119580.1:p.Phe582Cys
XM_005256119.1:c.1742T>G	XP_005256176.1:p.Phe581Cys
XM_005256119.2:c.1742T>G	XP_005256176.1:p.Phe581Cys
NM_000339.3:c.1745T>G	NP_000330.3:p.Phe582Cys
NM_001126107.2:c.1742T>G	NP_001119579.2:p.Phe581Cys
NM_001126108.2:c.1745T>G MANE Select	NP_001119580.2:p.Phe582Cys