Canonical Allele Identifier: CA2596112704

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2144722995
• gnomAD v3: 16-56884022-G-A
• gnomAD v4: 16-56884022-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884022G>A , CM000678.2:g.56884022G>A	GRCh38
NC_000016.9:g.56917934G>A , CM000678.1:g.56917934G>A	GRCh37
NC_000016.8:g.55475435G>A	NCBI36
NG_009386.1:g.23816G>A
NG_009386.2:g.23816G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1670-27G>A MANE Select	ENSP00000456149.2:n.1670-27G>A
ENST00000262502.5:c.1667-27G>A	ENSP00000262502.5:n.1667-27G>A
ENST00000438926.6:c.1670-27G>A	ENSP00000402152.2:n.1670-27G>A
ENST00000563236.5:c.1670-27G>A	ENSP00000456149.1:n.1670-27G>A
ENST00000566786.5:c.1667-27G>A	ENSP00000457552.1:n.1667-27G>A
NM_000339.2:c.1670-27G>A	NP_000330.2:n.1670-27G>A
NM_001126107.1:c.1667-27G>A	NP_001119579.1:n.1667-27G>A
NM_001126108.1:c.1670-27G>A	NP_001119580.1:n.1670-27G>A
XM_005256119.1:c.1667-27G>A	XP_005256176.1:n.1667-27G>A
XM_005256119.2:c.1667-27G>A	XP_005256176.1:n.1667-27G>A
NM_000339.3:c.1670-27G>A	NP_000330.3:n.1670-27G>A
NM_001126107.2:c.1667-27G>A	NP_001119579.2:n.1667-27G>A
NM_001126108.2:c.1670-27G>A MANE Select	NP_001119580.2:n.1670-27G>A