Canonical Allele Identifier: CA8069407

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 319899
• ClinVar RCV Id: RCV000366193 ; RCV001401125
• dbSNP Id: rs368455032
• ExAC: 16:56913053 G / A
• gnomAD v2: 16-56913053-G-A
• gnomAD v3: 16-56879141-G-A
• gnomAD v4: 16-56879141-G-A
• MyVariant Identifiers: chr16:g.56913053G>A (hg19) ; chr16:g.56879141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879141G>A , CM000678.2:g.56879141G>A	GRCh38
NC_000016.9:g.56913053G>A , CM000678.1:g.56913053G>A	GRCh37
NC_000016.8:g.55470554G>A	NCBI36
NG_009386.1:g.18935G>A
NG_009386.2:g.18935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1249G>A MANE Select	ENSP00000456149.2:p.Glu417Lys
ENST00000262502.5:c.1246G>A	ENSP00000262502.5:p.Glu416Lys
ENST00000438926.6:c.1249G>A	ENSP00000402152.2:p.Glu417Lys
ENST00000563236.5:c.1249G>A	ENSP00000456149.1:p.Glu417Lys
ENST00000566786.5:c.1246G>A	ENSP00000457552.1:p.Glu416Lys
NM_000339.2:c.1249G>A	NP_000330.2:p.Glu417Lys
NM_001126107.1:c.1246G>A	NP_001119579.1:p.Glu416Lys
NM_001126108.1:c.1249G>A	NP_001119580.1:p.Glu417Lys
XM_005256119.1:c.1246G>A	XP_005256176.1:p.Glu416Lys
XM_005256119.2:c.1246G>A	XP_005256176.1:p.Glu416Lys
NM_000339.3:c.1249G>A	NP_000330.3:p.Glu417Lys
NM_001126107.2:c.1246G>A	NP_001119579.2:p.Glu416Lys
NM_001126108.2:c.1249G>A MANE Select	NP_001119580.2:p.Glu417Lys