Canonical Allele Identifier: CA14786871
Gene: MAP1LC3A HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.34558028C>G
GRCh37 chr20:g.33145832C>G
gnomAD v2:
20:33145832 C / G
gnomAD v3:
20:34558028 C / G
gnomAD v4:
chr20-34558028-C-G
Joint Max Group AF 0.53481654 (AMR)
Genomes Max Group AF 0.53222493 (AMR)
Exomes Max Group AF 0.54089103 (AMR)
dbSNP:
1040747
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34558028C>G , CM000682.2:g.34558028C>G GRCh38
NC_000020.10:g.33145832C>G , CM000682.1:g.33145832C>G GRCh37
NC_000020.9:g.32609493C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374837.7:c.53-1180C>G ENSP00000363970.3:n.53-1180C>G
NM_181509.2:c.53-1180C>G NP_852610.1:n.53-1180C>G
XM_011529083.1:c.176-710C>G XP_011527385.1:n.176-710C>G
XM_011529084.1:c.176-710C>G XP_011527386.1:n.176-710C>G
XM_011529085.1:c.53-710C>G XP_011527387.1:n.53-710C>G
XM_011529083.2:c.176-710C>G XP_011527385.1:n.176-710C>G
XM_011529084.2:c.176-710C>G XP_011527386.1:n.176-710C>G
XM_011529085.2:c.53-710C>G XP_011527387.1:n.53-710C>G
NM_181509.3:c.53-1180C>G NP_852610.1:n.53-1180C>G
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