Canonical Allele Identifier: CA400555871

Gene: ACE

Linked Data

• dbSNP Id: rs2029956646
• gnomAD v3: 17-63486611-A-G
• gnomAD v4: 17-63486611-A-G
• MyVariant Identifiers: chr17:g.61563972A>G (hg19) ; chr17:g.63486611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486611A>G , CM000679.2:g.63486611A>G	GRCh38
NC_000017.10:g.61563972A>G , CM000679.1:g.61563972A>G	GRCh37
NC_000017.9:g.58917704A>G	NCBI36
NG_011648.1:g.14539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2113A>G MANE Select	ENSP00000290866.4:p.Arg705Gly
ENST00000290863.10:c.391A>G	ENSP00000290863.6:p.Arg131Gly
ENST00000290866.9:c.2113A>G	ENSP00000290866.4:p.Arg705Gly
ENST00000413513.7:c.391A>G	ENSP00000392247.3:p.Arg131Gly
ENST00000428043.5:c.2113A>G	ENSP00000397593.2:p.Arg705Gly
ENST00000577647.2:c.391A>G	ENSP00000464149.1:p.Arg131Gly
ENST00000578839.5:c.*183A>G	ENSP00000462110.2:n.*183A>G
ENST00000579204.1:c.294A>G	ENSP00000464629.1:n.294A>G
ENST00000579314.5:c.391A>G	ENSP00000462599.1:p.Arg131Gly
ENST00000579726.5:c.675A>G
ENST00000582005.5:c.*33A>G	ENSP00000462002.1:n.*33A>G
NM_000789.3:c.2113A>G	NP_000780.1:p.Arg705Gly
NM_001178057.1:c.391A>G	NP_001171528.1:p.Arg131Gly
NM_152830.2:c.391A>G	NP_690043.1:p.Arg131Gly
XM_005257110.1:c.1564A>G	XP_005257167.1:p.Arg522Gly
XM_006721737.2:c.451A>G	XP_006721800.2:p.Arg151Gly
XM_006721737.3:c.451A>G	XP_006721800.2:p.Arg151Gly
NM_000789.4:c.2113A>G MANE Select	NP_000780.1:p.Arg705Gly
NM_001178057.2:c.391A>G	NP_001171528.1:p.Arg131Gly
NM_152830.3:c.391A>G	NP_690043.1:p.Arg131Gly
NM_001382700.1:c.1546A>G	NP_001369629.1:p.Arg516Gly
NM_001382701.1:c.1261A>G	NP_001369630.1:p.Arg421Gly
NM_001382702.1:c.43A>G	NP_001369631.1:p.Arg15Gly
NR_168483.1:n.413A>G