Canonical Allele Identifier: CA8069978

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1303037
• ClinVar RCV Id: RCV001756536 ; RCV002243457
• dbSNP Id: rs370301695
• ExAC: 16:56928520 G / A
• gnomAD v2: 16-56928520-G-A
• gnomAD v3: 16-56894608-G-A
• gnomAD v4: 16-56894608-G-A
• COSMIC: COSM2836068
• MyVariant Identifiers: chr16:g.56928520G>A (hg19) ; chr16:g.56894608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894608G>A , CM000678.2:g.56894608G>A	GRCh38
NC_000016.9:g.56928520G>A , CM000678.1:g.56928520G>A	GRCh37
NC_000016.8:g.55486021G>A	NCBI36
NG_009386.1:g.34402G>A
NG_009386.2:g.34402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2599G>A MANE Select	ENSP00000456149.2:p.Gly867Ser
ENST00000262502.5:c.2596G>A	ENSP00000262502.5:p.Gly866Ser
ENST00000438926.6:c.2626G>A	ENSP00000402152.2:p.Gly876Ser
ENST00000563236.5:c.2599G>A	ENSP00000456149.1:p.Gly867Ser
ENST00000566786.5:c.2623G>A	ENSP00000457552.1:p.Gly875Ser
NM_000339.2:c.2626G>A	NP_000330.2:p.Gly876Ser
NM_001126107.1:c.2623G>A	NP_001119579.1:p.Gly875Ser
NM_001126108.1:c.2599G>A	NP_001119580.1:p.Gly867Ser
XM_005256119.1:c.2596G>A	XP_005256176.1:p.Gly866Ser
XM_005256119.2:c.2596G>A	XP_005256176.1:p.Gly866Ser
NM_000339.3:c.2626G>A	NP_000330.3:p.Gly876Ser
NM_001126107.2:c.2623G>A	NP_001119579.2:p.Gly875Ser
NM_001126108.2:c.2599G>A MANE Select	NP_001119580.2:p.Gly867Ser