Canonical Allele Identifier: CA2466438224

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694190T= , CM000685.2:g.153694190T=	GRCh38
NC_000023.10:g.152959645T= , CM000685.1:g.152959645T=	GRCh37
NC_000023.9:g.152612839T=	NCBI36
NG_012016.1:g.10894T=
NG_012016.2:g.10894T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1315T= MANE Select	ENSP00000253122.5:p.Phe439=
ENST00000253122.9:c.1315T=	ENSP00000253122.5:p.Phe439=
ENST00000413787.1:c.258-14T=	ENSP00000400463.1:n.258-14T=
ENST00000430077.6:c.970T=	ENSP00000403041.2:p.Phe324=
ENST00000442457.1:c.369T=
ENST00000485324.1:n.1460T=
NM_001142805.1:c.1285T=	NP_001136277.1:p.Phe429=
NM_001142806.1:c.970T=	NP_001136278.1:p.Phe324=
NM_005629.3:c.1315T=	NP_005620.1:p.Phe439=
NM_005629.4:c.1315T= MANE Select	NP_005620.1:p.Phe439=
NM_001142805.2:c.1285T=	NP_001136277.1:p.Phe429=