Canonical Allele Identifier: CA4989294
Gene: CER1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.14722479G>A
GRCh37 chr9:g.14722477G>A
Revel Score:
ENST00000380911 (MANE Select) 0.012
gnomAD v2:
9:14722477 G / A
gnomAD v3:
9:14722479 G / A
gnomAD v4:
chr9-14722479-G-A
Joint Max Group AF 0.00005028 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00005161 (NFE)
dbSNP:
3747532
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000380911.4:c.194C>T MANE Select ENSP00000370297.3:p.Ala65Val
ENST00000380911.3:c.194C>T ENSP00000370297.3:p.Ala65Val
NM_005454.2:c.194C>T NP_005445.1:p.Ala65Val
XR_001746419.1:n.1830C>T
NM_005454.3:c.194C>T MANE Select NP_005445.1:p.Ala65Val
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