Canonical Allele Identifier: CA395990422

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 803259
• ClinVar RCV Id: RCV000989609
• dbSNP Id: rs79351185
• gnomAD v2: 16-56917997-C-A
• gnomAD v4: 16-56884085-C-A
• MyVariant Identifiers: chr16:g.56917997C>A (hg19) ; chr16:g.56884085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884085C>A , CM000678.2:g.56884085C>A	GRCh38
NC_000016.9:g.56917997C>A , CM000678.1:g.56917997C>A	GRCh37
NC_000016.8:g.55475498C>A	NCBI36
NG_009386.1:g.23879C>A
NG_009386.2:g.23879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1706C>A MANE Select	ENSP00000456149.2:p.Ala569Glu
ENST00000262502.5:c.1703C>A	ENSP00000262502.5:p.Ala568Glu
ENST00000438926.6:c.1706C>A	ENSP00000402152.2:p.Ala569Glu
ENST00000563236.5:c.1706C>A	ENSP00000456149.1:p.Ala569Glu
ENST00000566786.5:c.1703C>A	ENSP00000457552.1:p.Ala568Glu
NM_000339.2:c.1706C>A	NP_000330.2:p.Ala569Glu
NM_001126107.1:c.1703C>A	NP_001119579.1:p.Ala568Glu
NM_001126108.1:c.1706C>A	NP_001119580.1:p.Ala569Glu
XM_005256119.1:c.1703C>A	XP_005256176.1:p.Ala568Glu
XM_005256119.2:c.1703C>A	XP_005256176.1:p.Ala568Glu
NM_000339.3:c.1706C>A	NP_000330.3:p.Ala569Glu
NM_001126107.2:c.1703C>A	NP_001119579.2:p.Ala568Glu
NM_001126108.2:c.1706C>A MANE Select	NP_001119580.2:p.Ala569Glu