Canonical Allele Identifier: CA2466436607
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690457C= , CM000685.2:g.153690457C= GRCh38
NC_000023.10:g.152955912C= , CM000685.1:g.152955912C= GRCh37
NC_000023.9:g.152609106C= NCBI36
NG_012016.1:g.7161C=
NG_012016.2:g.7161C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.345C= MANE Select ENSP00000253122.5:p.Phe115=
ENST00000675713.1:n.99C=
ENST00000253122.9:c.345C= ENSP00000253122.5:p.Phe115=
ENST00000430077.6:c.-1C= ENSP00000403041.2:n.-1C=
ENST00000476466.1:n.197C=
NM_001142805.1:c.345C= NP_001136277.1:p.Phe115=
NM_001142806.1:c.-1C= NP_001136278.1:n.-1C=
NM_005629.3:c.345C= NP_005620.1:p.Phe115=
NM_005629.4:c.345C= MANE Select NP_005620.1:p.Phe115=
NM_001142805.2:c.345C= NP_001136277.1:p.Phe115=