Canonical Allele Identifier: CA722010355

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1219886209
• MyVariant Identifiers: chr16:g.56918395_56918396insAA (hg19) ; chr16:g.56884483_56884484insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884483_56884484insAA , CM000678.2:g.56884483_56884484insAA	GRCh38
NC_000016.9:g.56918395_56918396insAA , CM000678.1:g.56918395_56918396insAA	GRCh37
NC_000016.8:g.55475896_55475897insAA	NCBI36
NG_009386.1:g.24277_24278insAA
NG_009386.2:g.24277_24278insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1825+279_1825+280insAA MANE Select	ENSP00000456149.2:n.1825+279_1825+280insAA
ENST00000262502.5:c.1822+279_1822+280insAA	ENSP00000262502.5:n.1822+279_1822+280insAA
ENST00000438926.6:c.1825+279_1825+280insAA	ENSP00000402152.2:n.1825+279_1825+280insAA
ENST00000563236.5:c.1825+279_1825+280insAA	ENSP00000456149.1:n.1825+279_1825+280insAA
ENST00000566786.5:c.1822+279_1822+280insAA	ENSP00000457552.1:n.1822+279_1822+280insAA
NM_000339.2:c.1825+279_1825+280insAA	NP_000330.2:n.1825+279_1825+280insAA
NM_001126107.1:c.1822+279_1822+280insAA	NP_001119579.1:n.1822+279_1822+280insAA
NM_001126108.1:c.1825+279_1825+280insAA	NP_001119580.1:n.1825+279_1825+280insAA
XM_005256119.1:c.1822+279_1822+280insAA	XP_005256176.1:n.1822+279_1822+280insAA
XM_005256119.2:c.1822+279_1822+280insAA	XP_005256176.1:n.1822+279_1822+280insAA
NM_000339.3:c.1825+279_1825+280insAA	NP_000330.3:n.1825+279_1825+280insAA
NM_001126107.2:c.1822+279_1822+280insAA	NP_001119579.2:n.1822+279_1822+280insAA
NM_001126108.2:c.1825+279_1825+280insAA MANE Select	NP_001119580.2:n.1825+279_1825+280insAA