Canonical Allele Identifier: CA2466438099

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693946C= , CM000685.2:g.153693946C=	GRCh38
NC_000023.10:g.152959401C= , CM000685.1:g.152959401C=	GRCh37
NC_000023.9:g.152612595C=	NCBI36
NG_012016.1:g.10650C=
NG_012016.2:g.10650C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1183C= MANE Select	ENSP00000253122.5:p.Leu395=
ENST00000253122.9:c.1183C=	ENSP00000253122.5:p.Leu395=
ENST00000413787.1:c.258-258C=	ENSP00000400463.1:n.258-258C=
ENST00000430077.6:c.838C=	ENSP00000403041.2:p.Leu280=
ENST00000442457.1:c.237C=
ENST00000457723.1:c.167C=	ENSP00000394742.1:p.Ala56=
ENST00000467402.1:n.282C=
ENST00000485324.1:n.1216C=
NM_001142805.1:c.1153C=	NP_001136277.1:p.Leu385=
NM_001142806.1:c.838C=	NP_001136278.1:p.Leu280=
NM_005629.3:c.1183C=	NP_005620.1:p.Leu395=
NM_005629.4:c.1183C= MANE Select	NP_005620.1:p.Leu395=
NM_001142805.2:c.1153C=	NP_001136277.1:p.Leu385=