Canonical Allele Identifier: CA2466438239
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694265G= , CM000685.2:g.153694265G= GRCh38
NC_000023.10:g.152959720G= , CM000685.1:g.152959720G= GRCh37
NC_000023.9:g.152612914G= NCBI36
NG_012016.1:g.10969G=
NG_012016.2:g.10969G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1390G= MANE Select ENSP00000253122.5:p.Asp464=
ENST00000253122.9:c.1390G= ENSP00000253122.5:p.Asp464=
ENST00000413787.1:c.319G= ENSP00000400463.1:p.Asp107=
ENST00000430077.6:c.1045G= ENSP00000403041.2:p.Asp349=
ENST00000442457.1:c.444G=
ENST00000485324.1:n.1535G=
NM_001142805.1:c.1360G= NP_001136277.1:p.Asp454=
NM_001142806.1:c.1045G= NP_001136278.1:p.Asp349=
NM_005629.3:c.1390G= NP_005620.1:p.Asp464=
NM_005629.4:c.1390G= MANE Select NP_005620.1:p.Asp464=
NM_001142805.2:c.1360G= NP_001136277.1:p.Asp454=