Canonical Allele Identifier: CA2466436612
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690478T= , CM000685.2:g.153690478T= GRCh38
NC_000023.10:g.152955933T= , CM000685.1:g.152955933T= GRCh37
NC_000023.9:g.152609127T= NCBI36
NG_012016.1:g.7182T=
NG_012016.2:g.7182T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.366T= MANE Select ENSP00000253122.5:p.Asn122=
ENST00000675713.1:n.120T=
ENST00000253122.9:c.366T= ENSP00000253122.5:p.Asn122=
ENST00000430077.6:c.21T= ENSP00000403041.2:p.Asn7=
ENST00000476466.1:n.218T=
NM_001142805.1:c.366T= NP_001136277.1:p.Asn122=
NM_001142806.1:c.21T= NP_001136278.1:p.Asn7=
NM_005629.3:c.366T= NP_005620.1:p.Asn122=
NM_005629.4:c.366T= MANE Select NP_005620.1:p.Asn122=
NM_001142805.2:c.366T= NP_001136277.1:p.Asn122=