Canonical Allele Identifier: CA10549333
Gene: SLC6A8 HGNC NCBI
ClinGen Classification:
Classification Uncertain Significance
Condition creatine transporter deficiency
VCEP Cerebral Creatine Deficiency Syndromes VCEP
ClinVar RCV:
RCV000458335
RCV001528827
RCV003899988
ClinVar Variation:
416002
dbSNP:
782208622
gnomAD v2:
X:152958538 G / A
gnomAD v3:
X:153693083 G / A
gnomAD v4:
chrX-153693083-G-A
Joint Max Group AF 0.00012117 (SAS)
Genomes Max Group AF 0.00003692 (NFE)
Exomes Max Group AF 0.00012792 (SAS)
MyVariant.info:
GRCh38 chrX:g.153693083G>A
GRCh37 chrX:g.152958538G>A
Revel Score:
ENST00000253122 (MANE Select) 0.559
ENST00000430077 0.559
ENST00000328897 0.559
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693083G>A , CM000685.2:g.153693083G>A GRCh38
NC_000023.10:g.152958538G>A , CM000685.1:g.152958538G>A GRCh37
NC_000023.9:g.152611732G>A NCBI36
NG_012016.1:g.9787G>A
NG_012016.2:g.9787G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.820G>A MANE Select ENSP00000253122.5:p.Val274Met
ENST00000253122.9:c.820G>A ENSP00000253122.5:p.Val274Met
ENST00000413787.1:c.30G>A ENSP00000400463.1:p.Ser10=
ENST00000430077.6:c.475G>A ENSP00000403041.2:p.Val159Met
ENST00000467402.1:n.146-409G>A
ENST00000485324.1:n.853G>A
NM_001142805.1:c.820G>A NP_001136277.1:p.Val274Met
NM_001142806.1:c.475G>A NP_001136278.1:p.Val159Met
NM_005629.3:c.820G>A NP_005620.1:p.Val274Met
NM_005629.4:c.820G>A MANE Select NP_005620.1:p.Val274Met
NM_001142805.2:c.820G>A NP_001136277.1:p.Val274Met
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