Canonical Allele Identifier: CA415079397

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153691528C>T , CM000685.2:g.153691528C>T	GRCh38
NC_000023.10:g.152956983C>T , CM000685.1:g.152956983C>T	GRCh37
NC_000023.9:g.152610177C>T	NCBI36
NG_012016.1:g.8232C>T
NG_012016.2:g.8232C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.619C>T MANE Select	NP_005620.1:p.Arg207Trp
ENST00000253122.10:c.619C>T MANE Select	ENSP00000253122.5:p.Arg207Trp
NM_001142805.1:c.619C>T	NP_001136277.1:p.Arg207Trp
NM_001142805.2:c.619C>T	NP_001136277.1:p.Arg207Trp
NM_001142806.1:c.274C>T	NP_001136278.1:p.Arg92Trp
NM_005629.3:c.619C>T	NP_005620.1:p.Arg207Trp
ENST00000253122.9:c.619C>T	ENSP00000253122.5:p.Arg207Trp
ENST00000429147.1:c.68C>T
ENST00000430077.6:c.274C>T	ENSP00000403041.2:p.Arg92Trp
ENST00000466243.1:n.411C>T
ENST00000467402.1:n.145+21C>T
ENST00000675713.1:n.373C>T