Canonical Allele Identifier: CA2466438091

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693924C= , CM000685.2:g.153693924C=	GRCh38
NC_000023.10:g.152959379C= , CM000685.1:g.152959379C=	GRCh37
NC_000023.9:g.152612573C=	NCBI36
NG_012016.1:g.10628C=
NG_012016.2:g.10628C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1161C= MANE Select	ENSP00000253122.5:p.Ile387=
ENST00000253122.9:c.1161C=	ENSP00000253122.5:p.Ile387=
ENST00000413787.1:c.258-280C=	ENSP00000400463.1:n.258-280C=
ENST00000430077.6:c.816C=	ENSP00000403041.2:p.Ile272=
ENST00000442457.1:c.215C=
ENST00000457723.1:c.145C=	ENSP00000394742.1:p.Arg49=
ENST00000467402.1:n.260C=
ENST00000485324.1:n.1194C=
NM_001142805.1:c.1131C=	NP_001136277.1:p.Ile377=
NM_001142806.1:c.816C=	NP_001136278.1:p.Ile272=
NM_005629.3:c.1161C=	NP_005620.1:p.Ile387=
NM_005629.4:c.1161C= MANE Select	NP_005620.1:p.Ile387=
NM_001142805.2:c.1131C=	NP_001136277.1:p.Ile377=