Canonical Allele Identifier: CA395990470

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56884094-T-C
• MyVariant Identifiers: chr16:g.56918006T>C (hg19) ; chr16:g.56884094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884094T>C , CM000678.2:g.56884094T>C	GRCh38
NC_000016.9:g.56918006T>C , CM000678.1:g.56918006T>C	GRCh37
NC_000016.8:g.55475507T>C	NCBI36
NG_009386.1:g.23888T>C
NG_009386.2:g.23888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1715T>C MANE Select	ENSP00000456149.2:p.Phe572Ser
ENST00000262502.5:c.1712T>C	ENSP00000262502.5:p.Phe571Ser
ENST00000438926.6:c.1715T>C	ENSP00000402152.2:p.Phe572Ser
ENST00000563236.5:c.1715T>C	ENSP00000456149.1:p.Phe572Ser
ENST00000566786.5:c.1712T>C	ENSP00000457552.1:p.Phe571Ser
NM_000339.2:c.1715T>C	NP_000330.2:p.Phe572Ser
NM_001126107.1:c.1712T>C	NP_001119579.1:p.Phe571Ser
NM_001126108.1:c.1715T>C	NP_001119580.1:p.Phe572Ser
XM_005256119.1:c.1712T>C	XP_005256176.1:p.Phe571Ser
XM_005256119.2:c.1712T>C	XP_005256176.1:p.Phe571Ser
NM_000339.3:c.1715T>C	NP_000330.3:p.Phe572Ser
NM_001126107.2:c.1712T>C	NP_001119579.2:p.Phe571Ser
NM_001126108.2:c.1715T>C MANE Select	NP_001119580.2:p.Phe572Ser