Canonical Allele Identifier: CA2466436613
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690487C= , CM000685.2:g.153690487C= GRCh38
NC_000023.10:g.152955942C= , CM000685.1:g.152955942C= GRCh37
NC_000023.9:g.152609136C= NCBI36
NG_012016.1:g.7191C=
NG_012016.2:g.7191C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.375C= MANE Select ENSP00000253122.5:p.Asn125=
ENST00000675713.1:n.129C=
ENST00000253122.9:c.375C= ENSP00000253122.5:p.Asn125=
ENST00000430077.6:c.30C= ENSP00000403041.2:p.Asn10=
ENST00000476466.1:n.227C=
NM_001142805.1:c.375C= NP_001136277.1:p.Asn125=
NM_001142806.1:c.30C= NP_001136278.1:p.Asn10=
NM_005629.3:c.375C= NP_005620.1:p.Asn125=
NM_005629.4:c.375C= MANE Select NP_005620.1:p.Asn125=
NM_001142805.2:c.375C= NP_001136277.1:p.Asn125=