Canonical Allele Identifier: CA365319959

Gene: ATG5

Linked Data

• ClinVar Variation Id: 430932
• ClinVar RCV Id: RCV000496077
• dbSNP Id: rs1131692265
• MyVariant Identifiers: chr6:g.106727648T>A (hg19) ; chr6:g.106279773T>A (hg38)
• PubMed: PMID:15981765 ; PMID:26812546

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.106279773T>A , CM000668.2:g.106279773T>A	GRCh38
NC_000006.11:g.106727648T>A , CM000668.1:g.106727648T>A	GRCh37
NC_000006.10:g.106834341T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360666.6:c.109-31529A>T	ENSP00000353884.4:n.109-31529A>T
ENST00000369076.8:c.366A>T MANE Select	ENSP00000358072.3:p.Glu122Asp
ENST00000635758.2:c.132A>T	ENSP00000490493.1:p.Glu44Asp
ENST00000636335.1:c.132A>T	ENSP00000490221.1:p.Glu44Asp
ENST00000636437.1:c.132A>T	ENSP00000490376.1:p.Glu44Asp
ENST00000646025.1:c.366A>T	ENSP00000495958.1:p.Glu122Asp
ENST00000343245.7:c.366A>T	ENSP00000343313.3:p.Glu122Asp
ENST00000360666.5:c.109-31529A>T	ENSP00000353884.4:n.109-31529A>T
ENST00000369070.5:c.132A>T	ENSP00000358066.1:p.Glu44Asp
ENST00000369076.7:c.366A>T	ENSP00000358072.3:p.Glu122Asp
ENST00000476518.1:n.51A>T
ENST00000613993.1:c.366A>T	ENSP00000483135.1:p.Glu122Asp
NM_001286106.1:c.366A>T	NP_001273035.1:p.Glu122Asp
NM_001286107.1:c.132A>T	NP_001273036.1:p.Glu44Asp
NM_001286108.1:c.366A>T	NP_001273037.1:p.Glu122Asp
NM_001286111.1:c.109-31529A>T	NP_001273040.1:n.109-31529A>T
NM_004849.3:c.366A>T	NP_004840.1:p.Glu122Asp
NR_104402.1:n.424A>T
NR_104403.1:n.296A>T
XM_011536263.1:c.366A>T	XP_011534565.1:p.Glu122Asp
XM_024446590.1:c.132A>T	XP_024302358.1:p.Glu44Asp
XR_001743757.2:n.688A>T
NM_004849.4:c.366A>T MANE Select	NP_004840.1:p.Glu122Asp
NM_001286106.2:c.366A>T	NP_001273035.1:p.Glu122Asp
NM_001286107.2:c.132A>T	NP_001273036.1:p.Glu44Asp
NM_001286108.2:c.366A>T	NP_001273037.1:p.Glu122Asp
NM_001286111.2:c.109-31529A>T	NP_001273040.1:n.109-31529A>T