Canonical Allele Identifier: CA395990632

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56884122-G-A
• MyVariant Identifiers: chr16:g.56918034G>A (hg19) ; chr16:g.56884122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884122G>A , CM000678.2:g.56884122G>A	GRCh38
NC_000016.9:g.56918034G>A , CM000678.1:g.56918034G>A	GRCh37
NC_000016.8:g.55475535G>A	NCBI36
NG_009386.1:g.23916G>A
NG_009386.2:g.23916G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1743G>A MANE Select	ENSP00000456149.2:p.Met581Ile
ENST00000262502.5:c.1740G>A	ENSP00000262502.5:p.Met580Ile
ENST00000438926.6:c.1743G>A	ENSP00000402152.2:p.Met581Ile
ENST00000563236.5:c.1743G>A	ENSP00000456149.1:p.Met581Ile
ENST00000566786.5:c.1740G>A	ENSP00000457552.1:p.Met580Ile
NM_000339.2:c.1743G>A	NP_000330.2:p.Met581Ile
NM_001126107.1:c.1740G>A	NP_001119579.1:p.Met580Ile
NM_001126108.1:c.1743G>A	NP_001119580.1:p.Met581Ile
XM_005256119.1:c.1740G>A	XP_005256176.1:p.Met580Ile
XM_005256119.2:c.1740G>A	XP_005256176.1:p.Met580Ile
NM_000339.3:c.1743G>A	NP_000330.3:p.Met581Ile
NM_001126107.2:c.1740G>A	NP_001119579.2:p.Met580Ile
NM_001126108.2:c.1743G>A MANE Select	NP_001119580.2:p.Met581Ile