Canonical Allele Identifier: CA5953681
Gene: ACCSL HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.44048296C>T
GRCh37 chr11:g.44069846C>T
Revel Score:
ENST00000378832 (MANE Select) 0.138
gnomAD v2:
11:44069846 C / T
gnomAD v3:
11:44048296 C / T
gnomAD v4:
chr11-44048296-C-T
Joint Max Group AF 0.00012915 (NFE)
Genomes Max Group AF 0.00008872 (AMR)
Exomes Max Group AF 0.00013242 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44048296C>T , CM000673.2:g.44048296C>T GRCh38
NC_000011.9:g.44069846C>T , CM000673.1:g.44069846C>T GRCh37
NC_000011.8:g.44026422C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378832.1:c.260C>T MANE Select ENSP00000368109.1:p.Ala87Val
ENST00000527145.1:c.260C>T ENSP00000436505.1:p.Ala87Val
NM_001031854.2:c.260C>T MANE Select NP_001027025.2:p.Ala87Val
XM_011520093.1:c.308C>T XP_011518395.1:p.Ala103Val
NM_001363113.1:c.-331C>T NP_001350042.1:n.-331C>T
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