Canonical Allele Identifier: CA8070060

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 989969
• ClinVar RCV Id: RCV001277884
• dbSNP Id: rs777021735
• ExAC: 16:56936362 T / A
• gnomAD v2: 16-56936362-T-A
• gnomAD v4: 16-56902450-T-A
• MyVariant Identifiers: chr16:g.56936362T>A (hg19) ; chr16:g.56902450T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902450T>A , CM000678.2:g.56902450T>A	GRCh38
NC_000016.9:g.56936362T>A , CM000678.1:g.56936362T>A	GRCh37
NC_000016.8:g.55493863T>A	NCBI36
NG_009386.1:g.42244T>A
NG_009386.2:g.42244T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2798T>A MANE Select	ENSP00000456149.2:p.Met933Lys
ENST00000262502.5:c.2795T>A	ENSP00000262502.5:p.Met932Lys
ENST00000438926.6:c.2825T>A	ENSP00000402152.2:p.Met942Lys
ENST00000563236.5:c.2798T>A	ENSP00000456149.1:p.Met933Lys
ENST00000566786.5:c.2822T>A	ENSP00000457552.1:p.Met941Lys
ENST00000569002.1:n.229T>A
NM_000339.2:c.2825T>A	NP_000330.2:p.Met942Lys
NM_001126107.1:c.2822T>A	NP_001119579.1:p.Met941Lys
NM_001126108.1:c.2798T>A	NP_001119580.1:p.Met933Lys
XM_005256119.1:c.2795T>A	XP_005256176.1:p.Met932Lys
XM_005256119.2:c.2795T>A	XP_005256176.1:p.Met932Lys
NM_000339.3:c.2825T>A	NP_000330.3:p.Met942Lys
NM_001126107.2:c.2822T>A	NP_001119579.2:p.Met941Lys
NM_001126108.2:c.2798T>A MANE Select	NP_001119580.2:p.Met933Lys