Canonical Allele Identifier: CA2633371371

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870292-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870292C>A , CM000678.2:g.56870292C>A	GRCh38
NC_000016.9:g.56904204C>A , CM000678.1:g.56904204C>A	GRCh37
NC_000016.8:g.55461705C>A	NCBI36
NG_009386.1:g.10086C>A
NG_009386.2:g.10086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.741+57C>A MANE Select	ENSP00000456149.2:n.741+57C>A
ENST00000262502.5:c.738+57C>A	ENSP00000262502.5:n.738+57C>A
ENST00000438926.6:c.741+57C>A	ENSP00000402152.2:n.741+57C>A
ENST00000563236.5:c.741+57C>A	ENSP00000456149.1:n.741+57C>A
ENST00000566786.5:c.738+57C>A	ENSP00000457552.1:n.738+57C>A
NM_000339.2:c.741+57C>A	NP_000330.2:n.741+57C>A
NM_001126107.1:c.738+57C>A	NP_001119579.1:n.738+57C>A
NM_001126108.1:c.741+57C>A	NP_001119580.1:n.741+57C>A
XM_005256119.1:c.738+57C>A	XP_005256176.1:n.738+57C>A
XM_005256119.2:c.738+57C>A	XP_005256176.1:n.738+57C>A
NM_000339.3:c.741+57C>A	NP_000330.3:n.741+57C>A
NM_001126107.2:c.738+57C>A	NP_001119579.2:n.738+57C>A
NM_001126108.2:c.741+57C>A MANE Select	NP_001119580.2:n.741+57C>A