Canonical Allele Identifier: CA2466438121
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694005T= , CM000685.2:g.153694005T= GRCh38
NC_000023.10:g.152959460T= , CM000685.1:g.152959460T= GRCh37
NC_000023.9:g.152612654T= NCBI36
NG_012016.1:g.10709T=
NG_012016.2:g.10709T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1242T= MANE Select ENSP00000253122.5:p.Gly414=
ENST00000253122.9:c.1242T= ENSP00000253122.5:p.Gly414=
ENST00000413787.1:c.258-199T= ENSP00000400463.1:n.258-199T=
ENST00000430077.6:c.897T= ENSP00000403041.2:p.Gly299=
ENST00000442457.1:c.296T=
ENST00000457723.1:c.226T= ENSP00000394742.1:p.Ser76=
ENST00000485324.1:n.1275T=
NM_001142805.1:c.1212T= NP_001136277.1:p.Gly404=
NM_001142806.1:c.897T= NP_001136278.1:p.Gly299=
NM_005629.3:c.1242T= NP_005620.1:p.Gly414=
NM_005629.4:c.1242T= MANE Select NP_005620.1:p.Gly414=
NM_001142805.2:c.1212T= NP_001136277.1:p.Gly404=