Canonical Allele Identifier: CA2466438100

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693947T= , CM000685.2:g.153693947T=	GRCh38
NC_000023.10:g.152959402T= , CM000685.1:g.152959402T=	GRCh37
NC_000023.9:g.152612596T=	NCBI36
NG_012016.1:g.10651T=
NG_012016.2:g.10651T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1184T= MANE Select	ENSP00000253122.5:p.Leu395=
ENST00000253122.9:c.1184T=	ENSP00000253122.5:p.Leu395=
ENST00000413787.1:c.258-257T=	ENSP00000400463.1:n.258-257T=
ENST00000430077.6:c.839T=	ENSP00000403041.2:p.Leu280=
ENST00000442457.1:c.238T=
ENST00000457723.1:c.168T=	ENSP00000394742.1:p.Ala56=
ENST00000467402.1:n.283T=
ENST00000485324.1:n.1217T=
NM_001142805.1:c.1154T=	NP_001136277.1:p.Leu385=
NM_001142806.1:c.839T=	NP_001136278.1:p.Leu280=
NM_005629.3:c.1184T=	NP_005620.1:p.Leu395=
NM_005629.4:c.1184T= MANE Select	NP_005620.1:p.Leu395=
NM_001142805.2:c.1154T=	NP_001136277.1:p.Leu385=