Canonical Allele Identifier: CA2466438103

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693956T= , CM000685.2:g.153693956T=	GRCh38
NC_000023.10:g.152959411T= , CM000685.1:g.152959411T=	GRCh37
NC_000023.9:g.152612605T=	NCBI36
NG_012016.1:g.10660T=
NG_012016.2:g.10660T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1193T= MANE Select	ENSP00000253122.5:p.Val398=
ENST00000253122.9:c.1193T=	ENSP00000253122.5:p.Val398=
ENST00000413787.1:c.258-248T=	ENSP00000400463.1:n.258-248T=
ENST00000430077.6:c.848T=	ENSP00000403041.2:p.Val283=
ENST00000442457.1:c.247T=
ENST00000457723.1:c.177T=	ENSP00000394742.1:p.Ser59=
ENST00000467402.1:n.292T=
ENST00000485324.1:n.1226T=
NM_001142805.1:c.1163T=	NP_001136277.1:p.Val388=
NM_001142806.1:c.848T=	NP_001136278.1:p.Val283=
NM_005629.3:c.1193T=	NP_005620.1:p.Val398=
NM_005629.4:c.1193T= MANE Select	NP_005620.1:p.Val398=
NM_001142805.2:c.1163T=	NP_001136277.1:p.Val388=