Canonical Allele Identifier: CA8069962

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 225470
• ClinVar RCV Id: RCV000490297 ; RCV000713330
• dbSNP Id: rs185927948
• ExAC: 16:56928467 T / A
• gnomAD v2: 16-56928467-T-A
• gnomAD v3: 16-56894555-T-A
• gnomAD v4: 16-56894555-T-A
• MyVariant Identifiers: chr16:g.56928467T>A (hg19) ; chr16:g.56894555T>A (hg38)
• PubMed: PMID:10616841

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894555T>A , CM000678.2:g.56894555T>A	GRCh38
NC_000016.9:g.56928467T>A , CM000678.1:g.56928467T>A	GRCh37
NC_000016.8:g.55485968T>A	NCBI36
NG_009386.1:g.34349T>A
NG_009386.2:g.34349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2546T>A MANE Select	ENSP00000456149.2:p.Leu849His
ENST00000262502.5:c.2543T>A	ENSP00000262502.5:p.Leu848His
ENST00000438926.6:c.2573T>A	ENSP00000402152.2:p.Leu858His
ENST00000563236.5:c.2546T>A	ENSP00000456149.1:p.Leu849His
ENST00000566786.5:c.2570T>A	ENSP00000457552.1:p.Leu857His
NM_000339.2:c.2573T>A	NP_000330.2:p.Leu858His
NM_001126107.1:c.2570T>A	NP_001119579.1:p.Leu857His
NM_001126108.1:c.2546T>A	NP_001119580.1:p.Leu849His
XM_005256119.1:c.2543T>A	XP_005256176.1:p.Leu848His
XM_005256119.2:c.2543T>A	XP_005256176.1:p.Leu848His
NM_000339.3:c.2573T>A	NP_000330.3:p.Leu858His
NM_001126107.2:c.2570T>A	NP_001119579.2:p.Leu857His
NM_001126108.2:c.2546T>A MANE Select	NP_001119580.2:p.Leu849His