Canonical Allele Identifier: CA8069394

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 946522
• ClinVar RCV Id: RCV001217403 ; RCV001828726
• dbSNP Id: rs751871500
• ExAC: 16:56912996 G / GTGCGTGA
• gnomAD v2: 16-56912996-G-GTGCGTGA
• gnomAD v3: 16-56879084-G-GTGCGTGA
• gnomAD v4: 16-56879084-G-GTGCGTGA
• MyVariant Identifiers: chr16:g.56912996_56912997insTGCGTGA (hg19) ; chr16:g.56879084_56879085insTGCGTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879088_56879094dup , CM000678.2:g.56879088_56879094dup	GRCh38
NC_000016.9:g.56913000_56913006dup , CM000678.1:g.56913000_56913006dup	GRCh37
NC_000016.8:g.55470501_55470507dup	NCBI36
NG_009386.1:g.18882_18888dup
NG_009386.2:g.18882_18888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1196_1202dup MANE Select	ENSP00000456149.2:p.Ser402Ter
ENST00000262502.5:c.1193_1199dup	ENSP00000262502.5:p.Ser401Ter
ENST00000438926.6:c.1196_1202dup	ENSP00000402152.2:p.Ser402Ter
ENST00000563236.5:c.1196_1202dup	ENSP00000456149.1:p.Ser402Ter
ENST00000566786.5:c.1193_1199dup	ENSP00000457552.1:p.Ser401Ter
NM_000339.2:c.1196_1202dup	NP_000330.2:p.Ser402Ter
NM_001126107.1:c.1193_1199dup	NP_001119579.1:p.Ser401Ter
NM_001126108.1:c.1196_1202dup	NP_001119580.1:p.Ser402Ter
XM_005256119.1:c.1193_1199dup	XP_005256176.1:p.Ser401Ter
XM_005256119.2:c.1193_1199dup	XP_005256176.1:p.Ser401Ter
NM_000339.3:c.1196_1202dup	NP_000330.3:p.Ser402Ter
NM_001126107.2:c.1193_1199dup	NP_001119579.2:p.Ser401Ter
NM_001126108.2:c.1196_1202dup MANE Select	NP_001119580.2:p.Ser402Ter