Canonical Allele Identifier: CA8699947

Gene: ACE

Linked Data

• dbSNP Id: rs771585066
• ExAC: 17:61564010 C / G
• gnomAD v2: 17-61564010-C-G
• gnomAD v4: 17-63486649-C-G
• MyVariant Identifiers: chr17:g.61564010C>G (hg19) ; chr17:g.63486649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486649C>G , CM000679.2:g.63486649C>G	GRCh38
NC_000017.10:g.61564010C>G , CM000679.1:g.61564010C>G	GRCh37
NC_000017.9:g.58917742C>G	NCBI36
NG_011648.1:g.14577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2151C>G MANE Select	ENSP00000290866.4:p.Ile717Met
ENST00000290863.10:c.429C>G	ENSP00000290863.6:p.Ile143Met
ENST00000290866.9:c.2151C>G	ENSP00000290866.4:p.Ile717Met
ENST00000413513.7:c.429C>G	ENSP00000392247.3:p.Ile143Met
ENST00000428043.5:c.2151C>G	ENSP00000397593.2:p.Ile717Met
ENST00000577647.2:c.429C>G	ENSP00000464149.1:p.Ile143Met
ENST00000578839.5:c.*221C>G	ENSP00000462110.2:n.*221C>G
ENST00000579204.1:c.332C>G	ENSP00000464629.1:n.332C>G
ENST00000579314.5:c.429C>G	ENSP00000462599.1:p.Ile143Met
ENST00000579726.5:c.713C>G
ENST00000582005.5:c.*71C>G	ENSP00000462002.1:n.*71C>G
NM_000789.3:c.2151C>G	NP_000780.1:p.Ile717Met
NM_001178057.1:c.429C>G	NP_001171528.1:p.Ile143Met
NM_152830.2:c.429C>G	NP_690043.1:p.Ile143Met
XM_005257110.1:c.1602C>G	XP_005257167.1:p.Ile534Met
XM_006721737.2:c.489C>G	XP_006721800.2:p.Ile163Met
XM_006721737.3:c.489C>G	XP_006721800.2:p.Ile163Met
NM_000789.4:c.2151C>G MANE Select	NP_000780.1:p.Ile717Met
NM_001178057.2:c.429C>G	NP_001171528.1:p.Ile143Met
NM_152830.3:c.429C>G	NP_690043.1:p.Ile143Met
NM_001382700.1:c.1584C>G	NP_001369629.1:p.Ile528Met
NM_001382701.1:c.1299C>G	NP_001369630.1:p.Ile433Met
NM_001382702.1:c.81C>G	NP_001369631.1:p.Ile27Met
NR_168483.1:n.451C>G