Canonical Allele Identifier: CA2466438094
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693933G= , CM000685.2:g.153693933G= GRCh38
NC_000023.10:g.152959388G= , CM000685.1:g.152959388G= GRCh37
NC_000023.9:g.152612582G= NCBI36
NG_012016.1:g.10637G=
NG_012016.2:g.10637G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1170G= MANE Select ENSP00000253122.5:p.Pro390=
ENST00000253122.9:c.1170G= ENSP00000253122.5:p.Pro390=
ENST00000413787.1:c.258-271G= ENSP00000400463.1:n.258-271G=
ENST00000430077.6:c.825G= ENSP00000403041.2:p.Pro275=
ENST00000442457.1:c.224G=
ENST00000457723.1:c.154G= ENSP00000394742.1:p.Ala52=
ENST00000467402.1:n.269G=
ENST00000485324.1:n.1203G=
NM_001142805.1:c.1140G= NP_001136277.1:p.Pro380=
NM_001142806.1:c.825G= NP_001136278.1:p.Pro275=
NM_005629.3:c.1170G= NP_005620.1:p.Pro390=
NM_005629.4:c.1170G= MANE Select NP_005620.1:p.Pro390=
NM_001142805.2:c.1140G= NP_001136277.1:p.Pro380=