Canonical Allele Identifier: CA2466438112

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693976C= , CM000685.2:g.153693976C=	GRCh38
NC_000023.10:g.152959431C= , CM000685.1:g.152959431C=	GRCh37
NC_000023.9:g.152612625C=	NCBI36
NG_012016.1:g.10680C=
NG_012016.2:g.10680C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1213C= MANE Select	ENSP00000253122.5:p.Leu405=
ENST00000253122.9:c.1213C=	ENSP00000253122.5:p.Leu405=
ENST00000413787.1:c.258-228C=	ENSP00000400463.1:n.258-228C=
ENST00000430077.6:c.868C=	ENSP00000403041.2:p.Leu290=
ENST00000442457.1:c.267C=
ENST00000457723.1:c.197C=	ENSP00000394742.1:p.Pro66=
ENST00000485324.1:n.1246C=
NM_001142805.1:c.1183C=	NP_001136277.1:p.Leu395=
NM_001142806.1:c.868C=	NP_001136278.1:p.Leu290=
NM_005629.3:c.1213C=	NP_005620.1:p.Leu405=
NM_005629.4:c.1213C= MANE Select	NP_005620.1:p.Leu405=
NM_001142805.2:c.1183C=	NP_001136277.1:p.Leu395=