Canonical Allele Identifier: CA4989293
Gene: CER1 HGNC NCBI
COSMIC:
COSM5002353 (not active)
MyVariant.info:
GRCh38 chr9:g.14722479G>C
GRCh37 chr9:g.14722477G>C
Revel Score:
ENST00000380911 (MANE Select) 0.053
gnomAD v2:
9:14722477 G / C
gnomAD v3:
9:14722479 G / C
gnomAD v4:
chr9-14722479-G-C
Joint Max Group AF 0.75476865 (AFR)
Genomes Max Group AF 0.74543065 (AFR)
Exomes Max Group AF 0.76151619 (AFR)
dbSNP:
3747532
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.14722479G>C , CM000671.2:g.14722479G>C GRCh38
NC_000009.11:g.14722477G>C , CM000671.1:g.14722477G>C GRCh37
NC_000009.10:g.14712477G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380911.4:c.194C>G MANE Select ENSP00000370297.3:p.Ala65Gly
ENST00000380911.3:c.194C>G ENSP00000370297.3:p.Ala65Gly
NM_005454.2:c.194C>G NP_005445.1:p.Ala65Gly
XR_001746419.1:n.1830C>G
NM_005454.3:c.194C>G MANE Select NP_005445.1:p.Ala65Gly
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