Canonical Allele Identifier: CA2224358060

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055340517

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887922_56887923insG , CM000678.2:g.56887922_56887923insG	GRCh38
NC_000016.9:g.56921834_56921835insG , CM000678.1:g.56921834_56921835insG	GRCh37
NC_000016.8:g.55479335_55479336insG	NCBI36
NG_009386.1:g.27716_27717insG
NG_009386.2:g.27716_27717insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2179-3_2179-2insG MANE Select	ENSP00000456149.2:n.2179-3_2179-2insG
ENST00000262502.5:c.2176-3_2176-2insG	ENSP00000262502.5:n.2176-3_2176-2insG
ENST00000438926.6:c.2179-3_2179-2insG	ENSP00000402152.2:n.2179-3_2179-2insG
ENST00000563236.5:c.2179-3_2179-2insG	ENSP00000456149.1:n.2179-3_2179-2insG
ENST00000566786.5:c.2176-3_2176-2insG	ENSP00000457552.1:n.2176-3_2176-2insG
NM_000339.2:c.2179-3_2179-2insG	NP_000330.2:n.2179-3_2179-2insG
NM_001126107.1:c.2176-3_2176-2insG	NP_001119579.1:n.2176-3_2176-2insG
NM_001126108.1:c.2179-3_2179-2insG	NP_001119580.1:n.2179-3_2179-2insG
XM_005256119.1:c.2176-3_2176-2insG	XP_005256176.1:n.2176-3_2176-2insG
XM_005256119.2:c.2176-3_2176-2insG	XP_005256176.1:n.2176-3_2176-2insG
NM_000339.3:c.2179-3_2179-2insG	NP_000330.3:n.2179-3_2179-2insG
NM_001126107.2:c.2176-3_2176-2insG	NP_001119579.2:n.2176-3_2176-2insG
NM_001126108.2:c.2179-3_2179-2insG MANE Select	NP_001119580.2:n.2179-3_2179-2insG