Canonical Allele Identifier: CA395994712

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055341528
• gnomAD v4: 16-56887970-T-A
• MyVariant Identifiers: chr16:g.56921882T>A (hg19) ; chr16:g.56887970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887970T>A , CM000678.2:g.56887970T>A	GRCh38
NC_000016.9:g.56921882T>A , CM000678.1:g.56921882T>A	GRCh37
NC_000016.8:g.55479383T>A	NCBI36
NG_009386.1:g.27764T>A
NG_009386.2:g.27764T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2224T>A MANE Select	ENSP00000456149.2:p.Phe742Ile
ENST00000262502.5:c.2221T>A	ENSP00000262502.5:p.Phe741Ile
ENST00000438926.6:c.2224T>A	ENSP00000402152.2:p.Phe742Ile
ENST00000563236.5:c.2224T>A	ENSP00000456149.1:p.Phe742Ile
ENST00000566786.5:c.2221T>A	ENSP00000457552.1:p.Phe741Ile
NM_000339.2:c.2224T>A	NP_000330.2:p.Phe742Ile
NM_001126107.1:c.2221T>A	NP_001119579.1:p.Phe741Ile
NM_001126108.1:c.2224T>A	NP_001119580.1:p.Phe742Ile
XM_005256119.1:c.2221T>A	XP_005256176.1:p.Phe741Ile
XM_005256119.2:c.2221T>A	XP_005256176.1:p.Phe741Ile
NM_000339.3:c.2224T>A	NP_000330.3:p.Phe742Ile
NM_001126107.2:c.2221T>A	NP_001119579.2:p.Phe741Ile
NM_001126108.2:c.2224T>A MANE Select	NP_001119580.2:p.Phe742Ile