Canonical Allele Identifier: CA2466438202
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694151A= , CM000685.2:g.153694151A= GRCh38
NC_000023.10:g.152959606A= , CM000685.1:g.152959606A= GRCh37
NC_000023.9:g.152612800A= NCBI36
NG_012016.1:g.10855A=
NG_012016.2:g.10855A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1276A= MANE Select ENSP00000253122.5:p.Ile426=
ENST00000253122.9:c.1276A= ENSP00000253122.5:p.Ile426=
ENST00000413787.1:c.258-53A= ENSP00000400463.1:n.258-53A=
ENST00000430077.6:c.931A= ENSP00000403041.2:p.Ile311=
ENST00000442457.1:c.330A=
ENST00000457723.1:c.253A= ENSP00000394742.1:p.Ile85=
ENST00000485324.1:n.1421A=
NM_001142805.1:c.1246A= NP_001136277.1:p.Ile416=
NM_001142806.1:c.931A= NP_001136278.1:p.Ile311=
NM_005629.3:c.1276A= NP_005620.1:p.Ile426=
NM_005629.4:c.1276A= MANE Select NP_005620.1:p.Ile426=
NM_001142805.2:c.1246A= NP_001136277.1:p.Ile416=