Canonical Allele Identifier: CA12203175
Gene: ATG5 HGNC NCBI
COSMIC:
COSN25091128 (not active)
MyVariant.info:
GRCh38 chr6:g.106140931A>C
GRCh37 chr6:g.106588806A>C
gnomAD v2:
6:106588806 A / C
gnomAD v3:
6:106140931 A / C
gnomAD v4:
chr6-106140931-A-C
Joint Max Group AF 0.64205775 (AMR)
Genomes Max Group AF 0.64205775 (AMR)
dbSNP:
6568431
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.106140931A>C , CM000668.2:g.106140931A>C GRCh38
NC_000006.11:g.106588806A>C , CM000668.1:g.106588806A>C GRCh37
NC_000006.10:g.106695499A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000636335.1:c.457+61041T>G ENSP00000490221.1:n.457+61041T>G
ENST00000636437.1:c.457+61041T>G ENSP00000490376.1:n.457+61041T>G
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