Canonical Allele Identifier: CA281504446

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1033596002
• gnomAD v4: 16-56884057-C-A
• MyVariant Identifiers: chr16:g.56917969C>A (hg19) ; chr16:g.56884057C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884057C>A , CM000678.2:g.56884057C>A	GRCh38
NC_000016.9:g.56917969C>A , CM000678.1:g.56917969C>A	GRCh37
NC_000016.8:g.55475470C>A	NCBI36
NG_009386.1:g.23851C>A
NG_009386.2:g.23851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1678C>A MANE Select	ENSP00000456149.2:p.Pro560Thr
ENST00000262502.5:c.1675C>A	ENSP00000262502.5:p.Pro559Thr
ENST00000438926.6:c.1678C>A	ENSP00000402152.2:p.Pro560Thr
ENST00000563236.5:c.1678C>A	ENSP00000456149.1:p.Pro560Thr
ENST00000566786.5:c.1675C>A	ENSP00000457552.1:p.Pro559Thr
NM_000339.2:c.1678C>A	NP_000330.2:p.Pro560Thr
NM_001126107.1:c.1675C>A	NP_001119579.1:p.Pro559Thr
NM_001126108.1:c.1678C>A	NP_001119580.1:p.Pro560Thr
XM_005256119.1:c.1675C>A	XP_005256176.1:p.Pro559Thr
XM_005256119.2:c.1675C>A	XP_005256176.1:p.Pro559Thr
NM_000339.3:c.1678C>A	NP_000330.3:p.Pro560Thr
NM_001126107.2:c.1675C>A	NP_001119579.2:p.Pro559Thr
NM_001126108.2:c.1678C>A MANE Select	NP_001119580.2:p.Pro560Thr