Canonical Allele Identifier: CA2466438102
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693951G= , CM000685.2:g.153693951G= GRCh38
NC_000023.10:g.152959406G= , CM000685.1:g.152959406G= GRCh37
NC_000023.9:g.152612600G= NCBI36
NG_012016.1:g.10655G=
NG_012016.2:g.10655G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1188G= MANE Select ENSP00000253122.5:p.Met396=
ENST00000253122.9:c.1188G= ENSP00000253122.5:p.Met396=
ENST00000413787.1:c.258-253G= ENSP00000400463.1:n.258-253G=
ENST00000430077.6:c.843G= ENSP00000403041.2:p.Met281=
ENST00000442457.1:c.242G=
ENST00000457723.1:c.172G= ENSP00000394742.1:p.Ala58=
ENST00000467402.1:n.287G=
ENST00000485324.1:n.1221G=
NM_001142805.1:c.1158G= NP_001136277.1:p.Met386=
NM_001142806.1:c.843G= NP_001136278.1:p.Met281=
NM_005629.3:c.1188G= NP_005620.1:p.Met396=
NM_005629.4:c.1188G= MANE Select NP_005620.1:p.Met396=
NM_001142805.2:c.1158G= NP_001136277.1:p.Met386=