Canonical Allele Identifier: CA519186681

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153692011G>A , CM000685.2:g.153692011G>A	GRCh38
NC_000023.10:g.152957466G>A , CM000685.1:g.152957466G>A	GRCh37
NC_000023.9:g.152610660G>A	NCBI36
NG_012016.1:g.8715G>A
NG_012016.2:g.8715G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.681G>A MANE Select	NP_005620.1:p.Val227=
ENST00000253122.10:c.681G>A MANE Select	ENSP00000253122.5:p.Val227=
NM_001142805.1:c.681G>A	NP_001136277.1:p.Val227=
NM_001142805.2:c.681G>A	NP_001136277.1:p.Val227=
NM_001142806.1:c.336G>A	NP_001136278.1:p.Val112=
NM_005629.3:c.681G>A	NP_005620.1:p.Val227=
ENST00000253122.9:c.681G>A	ENSP00000253122.5:p.Val227=
ENST00000429147.1:c.130G>A
ENST00000430077.6:c.336G>A	ENSP00000403041.2:p.Val112=
ENST00000466243.1:n.473G>A
ENST00000467402.1:n.145+504G>A
ENST00000675713.1:n.435G>A