Canonical Allele Identifier: CA2573152366

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1530668
• ClinVar RCV Id: RCV002099455
• dbSNP Id: rs2144723023

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884040_56884041delinsCC , CM000678.2:g.56884040_56884041delinsCC	GRCh38
NC_000016.9:g.56917952_56917953delinsCC , CM000678.1:g.56917952_56917953delinsCC	GRCh37
NC_000016.8:g.55475453_55475454delinsCC	NCBI36
NG_009386.1:g.23834_23835delinsCC
NG_009386.2:g.23834_23835delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1670-9_1670-8delinsCC MANE Select	ENSP00000456149.2:n.1670-9_1670-8delinsCC...
ENST00000262502.5:c.1667-9_1667-8delinsCC	ENSP00000262502.5:n.1667-9_1667-8delinsCC...
ENST00000438926.6:c.1670-9_1670-8delinsCC	ENSP00000402152.2:n.1670-9_1670-8delinsCC...
ENST00000563236.5:c.1670-9_1670-8delinsCC	ENSP00000456149.1:n.1670-9_1670-8delinsCC...
ENST00000566786.5:c.1667-9_1667-8delinsCC	ENSP00000457552.1:n.1667-9_1667-8delinsCC...
NM_000339.2:c.1670-9_1670-8delinsCC	NP_000330.2:n.1670-9_1670-8delinsCC
NM_001126107.1:c.1667-9_1667-8delinsCC	NP_001119579.1:n.1667-9_1667-8delinsCC
NM_001126108.1:c.1670-9_1670-8delinsCC	NP_001119580.1:n.1670-9_1670-8delinsCC
XM_005256119.1:c.1667-9_1667-8delinsCC	XP_005256176.1:n.1667-9_1667-8delinsCC
XM_005256119.2:c.1667-9_1667-8delinsCC	XP_005256176.1:n.1667-9_1667-8delinsCC
NM_000339.3:c.1670-9_1670-8delinsCC	NP_000330.3:n.1670-9_1670-8delinsCC
NM_001126107.2:c.1667-9_1667-8delinsCC	NP_001119579.2:n.1667-9_1667-8delinsCC
NM_001126108.2:c.1670-9_1670-8delinsCC MANE Select	NP_001119580.2:n.1670-9_1670-8delinsCC