Canonical Allele Identifier: CA2466438117

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693991C= , CM000685.2:g.153693991C=	GRCh38
NC_000023.10:g.152959446C= , CM000685.1:g.152959446C=	GRCh37
NC_000023.9:g.152612640C=	NCBI36
NG_012016.1:g.10695C=
NG_012016.2:g.10695C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1228C= MANE Select	ENSP00000253122.5:p.Leu410=
ENST00000253122.9:c.1228C=	ENSP00000253122.5:p.Leu410=
ENST00000413787.1:c.258-213C=	ENSP00000400463.1:n.258-213C=
ENST00000430077.6:c.883C=	ENSP00000403041.2:p.Leu295=
ENST00000442457.1:c.282C=
ENST00000457723.1:c.212C=	ENSP00000394742.1:p.Ala71=
ENST00000485324.1:n.1261C=
NM_001142805.1:c.1198C=	NP_001136277.1:p.Leu400=
NM_001142806.1:c.883C=	NP_001136278.1:p.Leu295=
NM_005629.3:c.1228C=	NP_005620.1:p.Leu410=
NM_005629.4:c.1228C= MANE Select	NP_005620.1:p.Leu410=
NM_001142805.2:c.1198C=	NP_001136277.1:p.Leu400=