Canonical Allele Identifier: CA415079266

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153691502T>G , CM000685.2:g.153691502T>G	GRCh38
NC_000023.10:g.152956957T>G , CM000685.1:g.152956957T>G	GRCh37
NC_000023.9:g.152610151T>G	NCBI36
NG_012016.1:g.8206T>G
NG_012016.2:g.8206T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.593T>G MANE Select	ENSP00000253122.5:p.Leu198Arg
ENST00000675713.1:n.347T>G
ENST00000253122.9:c.593T>G	ENSP00000253122.5:p.Leu198Arg
ENST00000429147.1:c.42T>G
ENST00000430077.6:c.248T>G	ENSP00000403041.2:p.Leu83Arg
ENST00000466243.1:n.385T>G
ENST00000467402.1:n.140T>G
NM_001142805.1:c.593T>G	NP_001136277.1:p.Leu198Arg
NM_001142806.1:c.248T>G	NP_001136278.1:p.Leu83Arg
NM_005629.3:c.593T>G	NP_005620.1:p.Leu198Arg
NM_005629.4:c.593T>G MANE Select	NP_005620.1:p.Leu198Arg
NM_001142805.2:c.593T>G	NP_001136277.1:p.Leu198Arg