Canonical Allele Identifier: CA8069095

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 817650
• ClinVar RCV Id: RCV001008853 ; RCV001827172
• dbSNP Id: rs770513014
• ExAC: 16:56903680 C / CCT
• gnomAD v2: 16-56903680-C-CCT
• gnomAD v3: 16-56869768-C-CCT
• gnomAD v4: 16-56869768-C-CCT
• MyVariant Identifiers: chr16:g.56903680_56903681insCT (hg19) ; chr16:g.56869768_56869769insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869770_56869771dup , CM000678.2:g.56869770_56869771dup	GRCh38
NC_000016.9:g.56903682_56903683dup , CM000678.1:g.56903682_56903683dup	GRCh37
NC_000016.8:g.55461183_55461184dup	NCBI36
NG_009386.1:g.9564_9565dup
NG_009386.2:g.9564_9565dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.547_548dup MANE Select	ENSP00000456149.2:p.Ile184ProfsTer?
ENST00000262502.5:c.544_545dup	ENSP00000262502.5:p.Ile183ProfsTer?
ENST00000438926.6:c.547_548dup	ENSP00000402152.2:p.Ile184ProfsTer?
ENST00000563236.5:c.547_548dup	ENSP00000456149.1:p.Ile184ProfsTer?
ENST00000566786.5:c.544_545dup	ENSP00000457552.1:p.Ile183ProfsTer?
NM_000339.2:c.547_548dup	NP_000330.2:p.Ile184ProfsTer?
NM_001126107.1:c.544_545dup	NP_001119579.1:p.Ile183ProfsTer?
NM_001126108.1:c.547_548dup	NP_001119580.1:p.Ile184ProfsTer?
XM_005256119.1:c.544_545dup	XP_005256176.1:p.Ile183ProfsTer?
XM_005256119.2:c.544_545dup	XP_005256176.1:p.Ile183ProfsTer?
NM_000339.3:c.547_548dup	NP_000330.3:p.Ile184ProfsTer?
NM_001126107.2:c.544_545dup	NP_001119579.2:p.Ile183ProfsTer?
NM_001126108.2:c.547_548dup MANE Select	NP_001119580.2:p.Ile184ProfsTer?