Canonical Allele Identifier: CA11940909

Gene: ATG12

Linked Data

• dbSNP Id: rs26537
• gnomAD v2: 5-115177014-T-C
• gnomAD v3: 5-115841317-T-C
• gnomAD v4: 5-115841317-T-C
• MyVariant Identifiers: chr5:g.115177014T>C (hg19) ; chr5:g.115841317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.115841317T>C , CM000667.2:g.115841317T>C	GRCh38
NC_000005.9:g.115177014T>C , CM000667.1:g.115177014T>C	GRCh37
NC_000005.8:g.115204913T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000509910.2:c.163+73A>G MANE Select	ENSP00000425107.1:n.163+73A>G
ENST00000379594.7:c.163+73A>G	ENSP00000368913.3:n.163+73A>G
ENST00000500945.2:c.163+73A>G	ENSP00000425164.1:n.163+73A>G
ENST00000505993.5:c.176+73A>G
ENST00000509910.1:c.163+73A>G	ENSP00000425107.1:n.163+73A>G
ENST00000513167.1:c.155+73A>G
ENST00000513322.5:c.*65A>G	ENSP00000424529.1:n.*65A>G
ENST00000514775.1:n.170+73A>G
NM_001277783.1:c.163+73A>G	NP_001264712.1:n.163+73A>G
NM_004707.3:c.163+73A>G	NP_004698.3:n.163+73A>G
NR_033362.1:n.462+73A>G
NR_033363.1:n.462+73A>G
NR_073603.1:n.462+73A>G
NM_004707.4:c.163+73A>G MANE Select	NP_004698.3:n.163+73A>G
NM_001277783.2:c.163+73A>G	NP_001264712.1:n.163+73A>G
NR_033362.2:n.176+73A>G
NR_033363.2:n.176+73A>G
NR_073603.2:n.176+73A>G