Canonical Allele Identifier: CA415088344

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694576C>A , CM000685.2:g.153694576C>A	GRCh38
NC_000023.10:g.152960031C>A , CM000685.1:g.152960031C>A	GRCh37
NC_000023.9:g.152613225C>A	NCBI36
NG_012016.1:g.11280C>A
NG_012016.2:g.11280C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.1539C>A MANE Select	NP_005620.1:p.Tyr513Ter
ENST00000253122.10:c.1539C>A MANE Select	ENSP00000253122.5:p.Tyr513Ter
NM_001142805.1:c.1509C>A	NP_001136277.1:p.Tyr503Ter
NM_001142805.2:c.1509C>A	NP_001136277.1:p.Tyr503Ter
NM_001142806.1:c.1194C>A	NP_001136278.1:p.Tyr398Ter
NM_005629.3:c.1539C>A	NP_005620.1:p.Tyr513Ter
ENST00000253122.9:c.1539C>A	ENSP00000253122.5:p.Tyr513Ter
ENST00000413787.1:c.468C>A	ENSP00000400463.1:p.Tyr156Ter
ENST00000430077.6:c.1194C>A	ENSP00000403041.2:p.Tyr398Ter
ENST00000485324.1:n.1846C>A