Canonical Allele Identifier: CA415087936

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694445C>A , CM000685.2:g.153694445C>A	GRCh38
NC_000023.10:g.152959900C>A , CM000685.1:g.152959900C>A	GRCh37
NC_000023.9:g.152613094C>A	NCBI36
NG_012016.1:g.11149C>A
NG_012016.2:g.11149C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.1494C>A MANE Select	NP_005620.1:p.Tyr498Ter
ENST00000253122.10:c.1494C>A MANE Select	ENSP00000253122.5:p.Tyr498Ter
NM_001142805.1:c.1464C>A	NP_001136277.1:p.Tyr488Ter
NM_001142805.2:c.1464C>A	NP_001136277.1:p.Tyr488Ter
NM_001142806.1:c.1149C>A	NP_001136278.1:p.Tyr383Ter
NM_005629.3:c.1494C>A	NP_005620.1:p.Tyr498Ter
ENST00000253122.9:c.1494C>A	ENSP00000253122.5:p.Tyr498Ter
ENST00000413787.1:c.423C>A	ENSP00000400463.1:p.Tyr141Ter
ENST00000430077.6:c.1149C>A	ENSP00000403041.2:p.Tyr383Ter
ENST00000485324.1:n.1715C>A