Canonical Allele Identifier: CA2466438085
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693906G= , CM000685.2:g.153693906G= GRCh38
NC_000023.10:g.152959361G= , CM000685.1:g.152959361G= GRCh37
NC_000023.9:g.152612555G= NCBI36
NG_012016.1:g.10610G=
NG_012016.2:g.10610G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1143G= MANE Select ENSP00000253122.5:p.Gly381=
ENST00000253122.9:c.1143G= ENSP00000253122.5:p.Gly381=
ENST00000413787.1:c.258-298G= ENSP00000400463.1:n.258-298G=
ENST00000430077.6:c.798G= ENSP00000403041.2:p.Gly266=
ENST00000442457.1:c.197G=
ENST00000457723.1:c.127G= ENSP00000394742.1:p.Ala43=
ENST00000467402.1:n.242G=
ENST00000485324.1:n.1176G=
NM_001142805.1:c.1113G= NP_001136277.1:p.Gly371=
NM_001142806.1:c.798G= NP_001136278.1:p.Gly266=
NM_005629.3:c.1143G= NP_005620.1:p.Gly381=
NM_005629.4:c.1143G= MANE Select NP_005620.1:p.Gly381=
NM_001142805.2:c.1113G= NP_001136277.1:p.Gly371=