Canonical Allele Identifier: CA2466436606
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690454G= , CM000685.2:g.153690454G= GRCh38
NC_000023.10:g.152955909G= , CM000685.1:g.152955909G= GRCh37
NC_000023.9:g.152609103G= NCBI36
NG_012016.1:g.7158G=
NG_012016.2:g.7158G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.342G= MANE Select ENSP00000253122.5:p.Gln114=
ENST00000675713.1:n.96G=
ENST00000253122.9:c.342G= ENSP00000253122.5:p.Gln114=
ENST00000430077.6:c.-4G= ENSP00000403041.2:n.-4G=
ENST00000476466.1:n.194G=
NM_001142805.1:c.342G= NP_001136277.1:p.Gln114=
NM_001142806.1:c.-4G= NP_001136278.1:n.-4G=
NM_005629.3:c.342G= NP_005620.1:p.Gln114=
NM_005629.4:c.342G= MANE Select NP_005620.1:p.Gln114=
NM_001142805.2:c.342G= NP_001136277.1:p.Gln114=