Canonical Allele Identifier: CA8069970

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 319916
• ClinVar RCV Id: RCV000349367 ; RCV002061202
• dbSNP Id: rs200253241
• ExAC: 16:56928499 A / G
• gnomAD v2: 16-56928499-A-G
• gnomAD v3: 16-56894587-A-G
• gnomAD v4: 16-56894587-A-G
• MyVariant Identifiers: chr16:g.56928499A>G (hg19) ; chr16:g.56894587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894587A>G , CM000678.2:g.56894587A>G	GRCh38
NC_000016.9:g.56928499A>G , CM000678.1:g.56928499A>G	GRCh37
NC_000016.8:g.55486000A>G	NCBI36
NG_009386.1:g.34381A>G
NG_009386.2:g.34381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2578A>G MANE Select	ENSP00000456149.2:p.Lys860Glu
ENST00000262502.5:c.2575A>G	ENSP00000262502.5:p.Lys859Glu
ENST00000438926.6:c.2605A>G	ENSP00000402152.2:p.Lys869Glu
ENST00000563236.5:c.2578A>G	ENSP00000456149.1:p.Lys860Glu
ENST00000566786.5:c.2602A>G	ENSP00000457552.1:p.Lys868Glu
NM_000339.2:c.2605A>G	NP_000330.2:p.Lys869Glu
NM_001126107.1:c.2602A>G	NP_001119579.1:p.Lys868Glu
NM_001126108.1:c.2578A>G	NP_001119580.1:p.Lys860Glu
XM_005256119.1:c.2575A>G	XP_005256176.1:p.Lys859Glu
XM_005256119.2:c.2575A>G	XP_005256176.1:p.Lys859Glu
NM_000339.3:c.2605A>G	NP_000330.3:p.Lys869Glu
NM_001126107.2:c.2602A>G	NP_001119579.2:p.Lys868Glu
NM_001126108.2:c.2578A>G MANE Select	NP_001119580.2:p.Lys860Glu