Canonical Allele Identifier: CA2466438242
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694274G= , CM000685.2:g.153694274G= GRCh38
NC_000023.10:g.152959729G= , CM000685.1:g.152959729G= GRCh37
NC_000023.9:g.152612923G= NCBI36
NG_012016.1:g.10978G=
NG_012016.2:g.10978G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1392+7G= MANE Select ENSP00000253122.5:n.1392+7G=
ENST00000253122.9:c.1392+7G= ENSP00000253122.5:n.1392+7G=
ENST00000413787.1:c.321+7G= ENSP00000400463.1:n.321+7G=
ENST00000430077.6:c.1047+7G= ENSP00000403041.2:n.1047+7G=
ENST00000442457.1:c.446+7G=
ENST00000485324.1:n.1544G=
NM_001142805.1:c.1362+7G= NP_001136277.1:n.1362+7G=
NM_001142806.1:c.1047+7G= NP_001136278.1:n.1047+7G=
NM_005629.3:c.1392+7G= NP_005620.1:n.1392+7G=
NM_005629.4:c.1392+7G= MANE Select NP_005620.1:n.1392+7G=
NM_001142805.2:c.1362+7G= NP_001136277.1:n.1362+7G=