Canonical Allele Identifier: CA8069163

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 3162846
• ClinVar RCV Id: RCV004456245
• dbSNP Id: rs771398122
• ExAC: 16:56904139 C / A
• gnomAD v2: 16-56904139-C-A
• gnomAD v3: 16-56870227-C-A
• gnomAD v4: 16-56870227-C-A
• MyVariant Identifiers: chr16:g.56904139C>A (hg19) ; chr16:g.56870227C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870227C>A , CM000678.2:g.56870227C>A	GRCh38
NC_000016.9:g.56904139C>A , CM000678.1:g.56904139C>A	GRCh37
NC_000016.8:g.55461640C>A	NCBI36
NG_009386.1:g.10021C>A
NG_009386.2:g.10021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.733C>A MANE Select	ENSP00000456149.2:p.Leu245Met
ENST00000262502.5:c.730C>A	ENSP00000262502.5:p.Leu244Met
ENST00000438926.6:c.733C>A	ENSP00000402152.2:p.Leu245Met
ENST00000563236.5:c.733C>A	ENSP00000456149.1:p.Leu245Met
ENST00000566786.5:c.730C>A	ENSP00000457552.1:p.Leu244Met
NM_000339.2:c.733C>A	NP_000330.2:p.Leu245Met
NM_001126107.1:c.730C>A	NP_001119579.1:p.Leu244Met
NM_001126108.1:c.733C>A	NP_001119580.1:p.Leu245Met
XM_005256119.1:c.730C>A	XP_005256176.1:p.Leu244Met
XM_005256119.2:c.730C>A	XP_005256176.1:p.Leu244Met
NM_000339.3:c.733C>A	NP_000330.3:p.Leu245Met
NM_001126107.2:c.730C>A	NP_001119579.2:p.Leu244Met
NM_001126108.2:c.733C>A MANE Select	NP_001119580.2:p.Leu245Met