Canonical Allele Identifier: CA10549344
Gene: SLC6A8 HGNC NCBI
ClinGen Classification:
Classification Benign
Condition creatine transporter deficiency
VCEP Cerebral Creatine Deficiency Syndromes VCEP
ClinVar RCV:
RCV000445146
RCV000462347
RCV001082450
ClinVar Variation:
383888
dbSNP:
782694291
gnomAD v2:
X:152958639 G / A
gnomAD v3:
X:153693184 G / A
gnomAD v4:
chrX-153693184-G-A
Joint Max Group AF 0.00247275 (AMR)
Genomes Max Group AF 0.00057098 (AMR)
Exomes Max Group AF 0.00294229 (AMR)
MyVariant.info:
GRCh38 chrX:g.153693184G>A
GRCh37 chrX:g.152958639G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693184G>A , CM000685.2:g.153693184G>A GRCh38
NC_000023.10:g.152958639G>A , CM000685.1:g.152958639G>A GRCh37
NC_000023.9:g.152611833G>A NCBI36
NG_012016.1:g.9888G>A
NG_012016.2:g.9888G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.912+9G>A MANE Select ENSP00000253122.5:n.912+9G>A
ENST00000253122.9:c.912+9G>A ENSP00000253122.5:n.912+9G>A
ENST00000413787.1:c.122+9G>A ENSP00000400463.1:n.122+9G>A
ENST00000430077.6:c.567+9G>A ENSP00000403041.2:n.567+9G>A
ENST00000467402.1:n.146-308G>A
ENST00000485324.1:n.945+9G>A
NM_001142805.1:c.912+9G>A NP_001136277.1:n.912+9G>A
NM_001142806.1:c.567+9G>A NP_001136278.1:n.567+9G>A
NM_005629.3:c.912+9G>A NP_005620.1:n.912+9G>A
NM_005629.4:c.912+9G>A MANE Select NP_005620.1:n.912+9G>A
NM_001142805.2:c.912+9G>A NP_001136277.1:n.912+9G>A
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