Canonical Allele Identifier: CA256012
Gene: SLC6A8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11700
ClinVar RCV Id: RCV000012466
dbSNP Id: rs122453115

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688833G>A , CM000685.2:g.153688833G>A GRCh38
NC_000023.10:g.152954288G>A , CM000685.1:g.152954288G>A GRCh37
NC_000023.9:g.152607482G>A NCBI36
NG_012016.1:g.5537G>A
NG_012016.2:g.5537G>A

Transcript Alleles

HGVS Amino-acid change
NM_001142805.1:c.259G>A VV NP_001136277.1:p.Gly87Arg
NM_005629.3:c.259G>A VV NP_005620.1:p.Gly87Arg
NM_005629.4:c.259G>A VV MANE Preferred NP_005620.1:p.Gly87Arg
ENST00000253122.9:c.259G>A ENSP00000253122.5:p.Gly87Arg
ENST00000458354.5:c.-21C>T ENSP00000401542.1:p.=
ENST00000476466.1:n.111G>A
ENST00000480693.1:n.46C>T