Canonical Allele Identifier: CA495607845

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055341945
• gnomAD v3: 16-56887993-T-G
• gnomAD v4: 16-56887993-T-G
• MyVariant Identifiers: chr16:g.56921905T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887993T>G , CM000678.2:g.56887993T>G	GRCh38
NC_000016.9:g.56921905T>G , CM000678.1:g.56921905T>G	GRCh37
NC_000016.8:g.55479406T>G	NCBI36
NG_009386.1:g.27787T>G
NG_009386.2:g.27787T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2247T>G MANE Select	ENSP00000456149.2:p.Ala749=
ENST00000262502.5:c.2244T>G	ENSP00000262502.5:p.Ala748=
ENST00000438926.6:c.2247T>G	ENSP00000402152.2:p.Ala749=
ENST00000563236.5:c.2247T>G	ENSP00000456149.1:p.Ala749=
ENST00000566786.5:c.2244T>G	ENSP00000457552.1:p.Ala748=
NM_000339.2:c.2247T>G	NP_000330.2:p.Ala749=
NM_001126107.1:c.2244T>G	NP_001119579.1:p.Ala748=
NM_001126108.1:c.2247T>G	NP_001119580.1:p.Ala749=
XM_005256119.1:c.2244T>G	XP_005256176.1:p.Ala748=
XM_005256119.2:c.2244T>G	XP_005256176.1:p.Ala748=
NM_000339.3:c.2247T>G	NP_000330.3:p.Ala749=
NM_001126107.2:c.2244T>G	NP_001119579.2:p.Ala748=
NM_001126108.2:c.2247T>G MANE Select	NP_001119580.2:p.Ala749=