Canonical Allele Identifier: CA495612786
Gene: SLC12A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.56928547A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56894635A>C , CM000678.2:g.56894635A>C GRCh38
NC_000016.9:g.56928547A>C , CM000678.1:g.56928547A>C GRCh37
NC_000016.8:g.55486048A>C NCBI36
NG_009386.1:g.34429A>C
NG_009386.2:g.34429A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2626A>C MANE Select ENSP00000456149.2:p.Arg876=
ENST00000262502.5:c.2623A>C ENSP00000262502.5:p.Arg875=
ENST00000438926.6:c.2653A>C ENSP00000402152.2:p.Arg885=
ENST00000563236.5:c.2626A>C ENSP00000456149.1:p.Arg876=
ENST00000566786.5:c.2650A>C ENSP00000457552.1:p.Arg884=
NM_000339.2:c.2653A>C NP_000330.2:p.Arg885=
NM_001126107.1:c.2650A>C NP_001119579.1:p.Arg884=
NM_001126108.1:c.2626A>C NP_001119580.1:p.Arg876=
XM_005256119.1:c.2623A>C XP_005256176.1:p.Arg875=
XM_005256119.2:c.2623A>C XP_005256176.1:p.Arg875=
NM_000339.3:c.2653A>C NP_000330.3:p.Arg885=
NM_001126107.2:c.2650A>C NP_001119579.2:p.Arg884=
NM_001126108.2:c.2626A>C MANE Select NP_001119580.2:p.Arg876=