Canonical Allele Identifier: CA2224349459

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1464496723
• gnomAD v4: 16-56870489-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870489C>G , CM000678.2:g.56870489C>G	GRCh38
NC_000016.9:g.56904401C>G , CM000678.1:g.56904401C>G	GRCh37
NC_000016.8:g.55461902C>G	NCBI36
NG_009386.1:g.10283C>G
NG_009386.2:g.10283C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.742-137C>G MANE Select	ENSP00000456149.2:n.742-137C>G
ENST00000262502.5:c.739-137C>G	ENSP00000262502.5:n.739-137C>G
ENST00000438926.6:c.742-137C>G	ENSP00000402152.2:n.742-137C>G
ENST00000563236.5:c.742-137C>G	ENSP00000456149.1:n.742-137C>G
ENST00000566786.5:c.739-137C>G	ENSP00000457552.1:n.739-137C>G
NM_000339.2:c.742-137C>G	NP_000330.2:n.742-137C>G
NM_001126107.1:c.739-137C>G	NP_001119579.1:n.739-137C>G
NM_001126108.1:c.742-137C>G	NP_001119580.1:n.742-137C>G
XM_005256119.1:c.739-137C>G	XP_005256176.1:n.739-137C>G
XM_005256119.2:c.739-137C>G	XP_005256176.1:n.739-137C>G
NM_000339.3:c.742-137C>G	NP_000330.3:n.742-137C>G
NM_001126107.2:c.739-137C>G	NP_001119579.2:n.739-137C>G
NM_001126108.2:c.742-137C>G MANE Select	NP_001119580.2:n.742-137C>G