Canonical Allele Identifier: CA2466438124
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694012A= , CM000685.2:g.153694012A= GRCh38
NC_000023.10:g.152959467A= , CM000685.1:g.152959467A= GRCh37
NC_000023.9:g.152612661A= NCBI36
NG_012016.1:g.10716A=
NG_012016.2:g.10716A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1249A= MANE Select ENSP00000253122.5:p.Ser417=
ENST00000253122.9:c.1249A= ENSP00000253122.5:p.Ser417=
ENST00000413787.1:c.258-192A= ENSP00000400463.1:n.258-192A=
ENST00000430077.6:c.904A= ENSP00000403041.2:p.Ser302=
ENST00000442457.1:c.303A=
ENST00000457723.1:c.233A= ENSP00000394742.1:p.Gln78=
ENST00000485324.1:n.1282A=
NM_001142805.1:c.1219A= NP_001136277.1:p.Ser407=
NM_001142806.1:c.904A= NP_001136278.1:p.Ser302=
NM_005629.3:c.1249A= NP_005620.1:p.Ser417=
NM_005629.4:c.1249A= MANE Select NP_005620.1:p.Ser417=
NM_001142805.2:c.1219A= NP_001136277.1:p.Ser407=