Canonical Allele Identifier: CA10603707
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 280878
ClinVar RCV Id: RCV000260337
dbSNP Id: rs886042005
MyVariant Identifiers: chrX:g.152959583A>G (hg19) chrX:g.153694128A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694128A>G , CM000685.2:g.153694128A>G GRCh38
NC_000023.10:g.152959583A>G , CM000685.1:g.152959583A>G GRCh37
NC_000023.9:g.152612777A>G NCBI36
NG_012016.1:g.10832A>G
NG_012016.2:g.10832A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253122.10:c.1255-2A>G MANE Select ENSP00000253122.5:n.1255-2A>G
ENST00000253122.9:c.1255-2A>G ENSP00000253122.5:n.1255-2A>G
ENST00000413787.1:c.258-76A>G ENSP00000400463.1:n.258-76A>G
ENST00000430077.6:c.910-2A>G ENSP00000403041.2:n.910-2A>G
ENST00000442457.1:c.309-2A>G
ENST00000457723.1:c.239-9A>G ENSP00000394742.1:n.239-9A>G
ENST00000485324.1:n.1398A>G
NM_001142805.1:c.1225-2A>G NP_001136277.1:n.1225-2A>G
NM_001142806.1:c.910-2A>G NP_001136278.1:n.910-2A>G
NM_005629.3:c.1255-2A>G NP_005620.1:n.1255-2A>G
NM_005629.4:c.1255-2A>G MANE Select NP_005620.1:n.1255-2A>G
NM_001142805.2:c.1225-2A>G NP_001136277.1:n.1225-2A>G
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