Canonical Allele Identifier: CA561944341

Gene: ATG12

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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