Canonical Allele Identifier: CA2466438230

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694208A= , CM000685.2:g.153694208A=	GRCh38
NC_000023.10:g.152959663A= , CM000685.1:g.152959663A=	GRCh37
NC_000023.9:g.152612857A=	NCBI36
NG_012016.1:g.10912A=
NG_012016.2:g.10912A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1333A= MANE Select	ENSP00000253122.5:p.Ile445=
ENST00000253122.9:c.1333A=	ENSP00000253122.5:p.Ile445=
ENST00000413787.1:c.262A=	ENSP00000400463.1:p.Ile88=
ENST00000430077.6:c.988A=	ENSP00000403041.2:p.Ile330=
ENST00000442457.1:c.387A=
ENST00000485324.1:n.1478A=
NM_001142805.1:c.1303A=	NP_001136277.1:p.Ile435=
NM_001142806.1:c.988A=	NP_001136278.1:p.Ile330=
NM_005629.3:c.1333A=	NP_005620.1:p.Ile445=
NM_005629.4:c.1333A= MANE Select	NP_005620.1:p.Ile445=
NM_001142805.2:c.1303A=	NP_001136277.1:p.Ile435=