Canonical Allele Identifier: CA10549407

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693465C>T , CM000685.2:g.153693465C>T	GRCh38
NC_000023.10:g.152958920C>T , CM000685.1:g.152958920C>T	GRCh37
NC_000023.9:g.152612114C>T	NCBI36
NG_012016.1:g.10169C>T
NG_012016.2:g.10169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1020C>T MANE Select	ENSP00000253122.5:p.Asp340=
ENST00000253122.9:c.1020C>T	ENSP00000253122.5:p.Asp340=
ENST00000413787.1:c.163-27C>T	ENSP00000400463.1:n.163-27C>T
ENST00000430077.6:c.675C>T	ENSP00000403041.2:p.Asp225=
ENST00000442457.1:c.101-27C>T
ENST00000457723.1:c.4C>T	ENSP00000394742.1:p.Arg2Cys
ENST00000467402.1:n.146-27C>T
ENST00000485324.1:n.1053C>T
NM_001142805.1:c.1017-27C>T	NP_001136277.1:n.1017-27C>T
NM_001142806.1:c.675C>T	NP_001136278.1:p.Asp225=
NM_005629.3:c.1020C>T	NP_005620.1:p.Asp340=
NM_005629.4:c.1020C>T MANE Select	NP_005620.1:p.Asp340=
NM_001142805.2:c.1017-27C>T	NP_001136277.1:n.1017-27C>T