Canonical Allele Identifier: CA2466438237

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694260T= , CM000685.2:g.153694260T=	GRCh38
NC_000023.10:g.152959715T= , CM000685.1:g.152959715T=	GRCh37
NC_000023.9:g.152612909T=	NCBI36
NG_012016.1:g.10964T=
NG_012016.2:g.10964T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1385T= MANE Select	ENSP00000253122.5:p.Val462=
ENST00000253122.9:c.1385T=	ENSP00000253122.5:p.Val462=
ENST00000413787.1:c.314T=	ENSP00000400463.1:p.Val105=
ENST00000430077.6:c.1040T=	ENSP00000403041.2:p.Val347=
ENST00000442457.1:c.439T=
ENST00000485324.1:n.1530T=
NM_001142805.1:c.1355T=	NP_001136277.1:p.Val452=
NM_001142806.1:c.1040T=	NP_001136278.1:p.Val347=
NM_005629.3:c.1385T=	NP_005620.1:p.Val462=
NM_005629.4:c.1385T= MANE Select	NP_005620.1:p.Val462=
NM_001142805.2:c.1355T=	NP_001136277.1:p.Val452=