Canonical Allele Identifier: CA2224361265
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56894636G= , CM000678.2:g.56894636G= GRCh38
NC_000016.9:g.56928548G= , CM000678.1:g.56928548G= GRCh37
NC_000016.8:g.55486049G= NCBI36
NG_009386.1:g.34430G=
NG_009386.2:g.34430G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2627G= MANE Select ENSP00000456149.2:p.Arg876=
ENST00000262502.5:c.2624G= ENSP00000262502.5:p.Arg875=
ENST00000438926.6:c.2654G= ENSP00000402152.2:p.Arg885=
ENST00000563236.5:c.2627G= ENSP00000456149.1:p.Arg876=
ENST00000566786.5:c.2651G= ENSP00000457552.1:p.Arg884=
NM_000339.2:c.2654G= NP_000330.2:p.Arg885=
NM_001126107.1:c.2651G= NP_001119579.1:p.Arg884=
NM_001126108.1:c.2627G= NP_001119580.1:p.Arg876=
XM_005256119.1:c.2624G= XP_005256176.1:p.Arg875=
XM_005256119.2:c.2624G= XP_005256176.1:p.Arg875=
NM_000339.3:c.2654G= NP_000330.3:p.Arg885=
NM_001126107.2:c.2651G= NP_001119579.2:p.Arg884=
NM_001126108.2:c.2627G= MANE Select NP_001119580.2:p.Arg876=