Canonical Allele Identifier: CA2224358065
Community Standard Title: NM_001126108.2(SLC12A3):c.2186G= (p.Gly729=)
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56887932G= , CM000678.2:g.56887932G= GRCh38
NC_000016.9:g.56921844G= , CM000678.1:g.56921844G= GRCh37
NC_000016.8:g.55479345G= NCBI36
NG_009386.1:g.27726G=
NG_009386.2:g.27726G=

Transcript Alleles

HGVS Amino-acid Change
NM_001126108.2:c.2186G= MANE Select NP_001119580.2:p.Gly729=
ENST00000563236.6:c.2186G= MANE Select ENSP00000456149.2:p.Gly729=
NM_000339.2:c.2186G= NP_000330.2:p.Gly729=
NM_000339.3:c.2186G= NP_000330.3:p.Gly729=
NM_001126107.1:c.2183G= NP_001119579.1:p.Gly728=
NM_001126107.2:c.2183G= NP_001119579.2:p.Gly728=
NM_001126108.1:c.2186G= NP_001119580.1:p.Gly729=
ENST00000262502.5:c.2183G= ENSP00000262502.5:p.Gly728=
ENST00000438926.6:c.2186G= ENSP00000402152.2:p.Gly729=
ENST00000563236.5:c.2186G= ENSP00000456149.1:p.Gly729=
ENST00000566786.5:c.2183G= ENSP00000457552.1:p.Gly728=
XM_005256119.1:c.2183G= XP_005256176.1:p.Gly728=
XM_005256119.2:c.2183G= XP_005256176.1:p.Gly728=