Canonical Allele Identifier: CA415086178

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1321489
• ClinVar RCV Id: RCV001779581
• dbSNP Id: rs782582952
• MyVariant Identifiers: chrX:g.152959379C>G (hg19) ; chrX:g.153693924C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693924C>G , CM000685.2:g.153693924C>G	GRCh38
NC_000023.10:g.152959379C>G , CM000685.1:g.152959379C>G	GRCh37
NC_000023.9:g.152612573C>G	NCBI36
NG_012016.1:g.10628C>G
NG_012016.2:g.10628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1161C>G MANE Select	ENSP00000253122.5:p.Ile387Met
ENST00000253122.9:c.1161C>G	ENSP00000253122.5:p.Ile387Met
ENST00000413787.1:c.258-280C>G	ENSP00000400463.1:n.258-280C>G
ENST00000430077.6:c.816C>G	ENSP00000403041.2:p.Ile272Met
ENST00000442457.1:c.215C>G
ENST00000457723.1:c.145C>G	ENSP00000394742.1:p.Arg49Gly
ENST00000467402.1:n.260C>G
ENST00000485324.1:n.1194C>G
NM_001142805.1:c.1131C>G	NP_001136277.1:p.Ile377Met
NM_001142806.1:c.816C>G	NP_001136278.1:p.Ile272Met
NM_005629.3:c.1161C>G	NP_005620.1:p.Ile387Met
NM_005629.4:c.1161C>G MANE Select	NP_005620.1:p.Ile387Met
NM_001142805.2:c.1131C>G	NP_001136277.1:p.Ile377Met