Canonical Allele Identifier: CA2466438167
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694071C= , CM000685.2:g.153694071C= GRCh38
NC_000023.10:g.152959526C= , CM000685.1:g.152959526C= GRCh37
NC_000023.9:g.152612720C= NCBI36
NG_012016.1:g.10775C=
NG_012016.2:g.10775C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1254+54C= MANE Select ENSP00000253122.5:n.1254+54C=
ENST00000253122.9:c.1254+54C= ENSP00000253122.5:n.1254+54C=
ENST00000413787.1:c.258-133C= ENSP00000400463.1:n.258-133C=
ENST00000430077.6:c.909+54C= ENSP00000403041.2:n.909+54C=
ENST00000442457.1:c.308+54C=
ENST00000457723.1:c.238+54C= ENSP00000394742.1:n.238+54C=
ENST00000485324.1:n.1341C=
NM_001142805.1:c.1224+54C= NP_001136277.1:n.1224+54C=
NM_001142806.1:c.909+54C= NP_001136278.1:n.909+54C=
NM_005629.3:c.1254+54C= NP_005620.1:n.1254+54C=
NM_005629.4:c.1254+54C= MANE Select NP_005620.1:n.1254+54C=
NM_001142805.2:c.1224+54C= NP_001136277.1:n.1224+54C=