Canonical Allele Identifier: CA415079810

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153692006G>T , CM000685.2:g.153692006G>T	GRCh38
NC_000023.10:g.152957461G>T , CM000685.1:g.152957461G>T	GRCh37
NC_000023.9:g.152610655G>T	NCBI36
NG_012016.1:g.8710G>T
NG_012016.2:g.8710G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.676G>T MANE Select	NP_005620.1:p.Glu226Ter
ENST00000253122.10:c.676G>T MANE Select	ENSP00000253122.5:p.Glu226Ter
NM_001142805.1:c.676G>T	NP_001136277.1:p.Glu226Ter
NM_001142805.2:c.676G>T	NP_001136277.1:p.Glu226Ter
NM_001142806.1:c.331G>T	NP_001136278.1:p.Glu111Ter
NM_005629.3:c.676G>T	NP_005620.1:p.Glu226Ter
ENST00000253122.9:c.676G>T	ENSP00000253122.5:p.Glu226Ter
ENST00000429147.1:c.125G>T
ENST00000430077.6:c.331G>T	ENSP00000403041.2:p.Glu111Ter
ENST00000466243.1:n.468G>T
ENST00000467402.1:n.145+499G>T
ENST00000675713.1:n.430G>T