Canonical Allele Identifier: CA495613552
Gene: SLC12A3 HGNC NCBI

Linked Data

dbSNP Id: rs2144772272
MyVariant Identifiers: chr16:g.56938315G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56904403G>T , CM000678.2:g.56904403G>T GRCh38
NC_000016.9:g.56938315G>T , CM000678.1:g.56938315G>T GRCh37
NC_000016.8:g.55495816G>T NCBI36
NG_009386.1:g.44197G>T
NG_009386.2:g.44197G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.2865G>T MANE Select ENSP00000456149.2:p.Arg955=
ENST00000262502.5:c.2862G>T ENSP00000262502.5:p.Arg954=
ENST00000438926.6:c.2892G>T ENSP00000402152.2:p.Arg964=
ENST00000563236.5:c.2865G>T ENSP00000456149.1:p.Arg955=
ENST00000566786.5:c.2889G>T ENSP00000457552.1:p.Arg963=
ENST00000569002.1:n.296G>T
NM_000339.2:c.2892G>T NP_000330.2:p.Arg964=
NM_001126107.1:c.2889G>T NP_001119579.1:p.Arg963=
NM_001126108.1:c.2865G>T NP_001119580.1:p.Arg955=
XM_005256119.1:c.2862G>T XP_005256176.1:p.Arg954=
XM_005256119.2:c.2862G>T XP_005256176.1:p.Arg954=
NM_000339.3:c.2892G>T NP_000330.3:p.Arg964=
NM_001126107.2:c.2889G>T NP_001119579.2:p.Arg963=
NM_001126108.2:c.2865G>T MANE Select NP_001119580.2:p.Arg955=