Canonical Allele Identifier: CA395990281

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1402444800
• gnomAD v4: 16-56884058-C-G
• MyVariant Identifiers: chr16:g.56917970C>G (hg19) ; chr16:g.56884058C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884058C>G , CM000678.2:g.56884058C>G	GRCh38
NC_000016.9:g.56917970C>G , CM000678.1:g.56917970C>G	GRCh37
NC_000016.8:g.55475471C>G	NCBI36
NG_009386.1:g.23852C>G
NG_009386.2:g.23852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1679C>G MANE Select	ENSP00000456149.2:p.Pro560Arg
ENST00000262502.5:c.1676C>G	ENSP00000262502.5:p.Pro559Arg
ENST00000438926.6:c.1679C>G	ENSP00000402152.2:p.Pro560Arg
ENST00000563236.5:c.1679C>G	ENSP00000456149.1:p.Pro560Arg
ENST00000566786.5:c.1676C>G	ENSP00000457552.1:p.Pro559Arg
NM_000339.2:c.1679C>G	NP_000330.2:p.Pro560Arg
NM_001126107.1:c.1676C>G	NP_001119579.1:p.Pro559Arg
NM_001126108.1:c.1679C>G	NP_001119580.1:p.Pro560Arg
XM_005256119.1:c.1676C>G	XP_005256176.1:p.Pro559Arg
XM_005256119.2:c.1676C>G	XP_005256176.1:p.Pro559Arg
NM_000339.3:c.1679C>G	NP_000330.3:p.Pro560Arg
NM_001126107.2:c.1676C>G	NP_001119579.2:p.Pro559Arg
NM_001126108.2:c.1679C>G MANE Select	NP_001119580.2:p.Pro560Arg