Canonical Allele Identifier: CA15464476
Gene: ATG5 HGNC NCBI
COSMIC:
COSN16914202 (not active)
MyVariant.info:
GRCh38 chr6:g.106316991G>A
GRCh37 chr6:g.106764866G>A
gnomAD v2:
6:106764866 G / A
gnomAD v3:
6:106316991 G / A
gnomAD v4:
chr6-106316991-G-A
Joint Max Group AF 0.45839416 (AFR)
Genomes Max Group AF 0.45839416 (AFR)
dbSNP:
573775
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.106316991G>A , CM000668.2:g.106316991G>A GRCh38
NC_000006.11:g.106764866G>A , CM000668.1:g.106764866G>A GRCh37
NC_000006.10:g.106871559G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360666.6:c.-58-725C>T ENSP00000353884.4:n.-58-725C>T
ENST00000369076.8:c.-58-725C>T MANE Select ENSP00000358072.3:n.-58-725C>T
ENST00000635758.2:c.-164-725C>T ENSP00000490493.1:n.-164-725C>T
ENST00000636335.1:c.-164-725C>T ENSP00000490221.1:n.-164-725C>T
ENST00000636437.1:c.-164-725C>T ENSP00000490376.1:n.-164-725C>T
ENST00000646025.1:c.-58-725C>T ENSP00000495958.1:n.-58-725C>T
ENST00000343245.7:c.-58-725C>T ENSP00000343313.3:n.-58-725C>T
ENST00000360666.5:c.-58-725C>T ENSP00000353884.4:n.-58-725C>T
ENST00000369070.5:c.-164-725C>T ENSP00000358066.1:n.-164-725C>T
ENST00000369076.7:c.-58-725C>T ENSP00000358072.3:n.-58-725C>T
NM_001286106.1:c.-58-725C>T NP_001273035.1:n.-58-725C>T
NM_001286107.1:c.-164-725C>T NP_001273036.1:n.-164-725C>T
NM_001286108.1:c.-58-725C>T NP_001273037.1:n.-58-725C>T
NM_001286111.1:c.-58-725C>T NP_001273040.1:n.-58-725C>T
NM_004849.3:c.-58-725C>T NP_004840.1:n.-58-725C>T
XM_011536263.1:c.-58-725C>T XP_011534565.1:n.-58-725C>T
XM_024446590.1:c.-164-725C>T XP_024302358.1:n.-164-725C>T
XR_001743757.2:n.265-725C>T
NM_004849.4:c.-58-725C>T MANE Select NP_004840.1:n.-58-725C>T
NM_001286106.2:c.-58-725C>T NP_001273035.1:n.-58-725C>T
NM_001286107.2:c.-164-725C>T NP_001273036.1:n.-164-725C>T
NM_001286108.2:c.-58-725C>T NP_001273037.1:n.-58-725C>T
NM_001286111.2:c.-58-725C>T NP_001273040.1:n.-58-725C>T
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