Canonical Allele Identifier: CA415086321

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959402T>G (hg19) ; chrX:g.153693947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693947T>G , CM000685.2:g.153693947T>G	GRCh38
NC_000023.10:g.152959402T>G , CM000685.1:g.152959402T>G	GRCh37
NC_000023.9:g.152612596T>G	NCBI36
NG_012016.1:g.10651T>G
NG_012016.2:g.10651T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1184T>G MANE Select	ENSP00000253122.5:p.Leu395Arg
ENST00000253122.9:c.1184T>G	ENSP00000253122.5:p.Leu395Arg
ENST00000413787.1:c.258-257T>G	ENSP00000400463.1:n.258-257T>G
ENST00000430077.6:c.839T>G	ENSP00000403041.2:p.Leu280Arg
ENST00000442457.1:c.238T>G
ENST00000457723.1:c.168T>G	ENSP00000394742.1:p.Ala56=
ENST00000467402.1:n.283T>G
ENST00000485324.1:n.1217T>G
NM_001142805.1:c.1154T>G	NP_001136277.1:p.Leu385Arg
NM_001142806.1:c.839T>G	NP_001136278.1:p.Leu280Arg
NM_005629.3:c.1184T>G	NP_005620.1:p.Leu395Arg
NM_005629.4:c.1184T>G MANE Select	NP_005620.1:p.Leu395Arg
NM_001142805.2:c.1154T>G	NP_001136277.1:p.Leu385Arg