Canonical Allele Identifier: CA8699940

Gene: ACE

Linked Data

• dbSNP Id: rs751787326
• ExAC: 17:61563968 G / C
• gnomAD v2: 17-61563968-G-C
• gnomAD v3: 17-63486607-G-C
• gnomAD v4: 17-63486607-G-C
• MyVariant Identifiers: chr17:g.61563968G>C (hg19) ; chr17:g.63486607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486607G>C , CM000679.2:g.63486607G>C	GRCh38
NC_000017.10:g.61563968G>C , CM000679.1:g.61563968G>C	GRCh37
NC_000017.9:g.58917700G>C	NCBI36
NG_011648.1:g.14535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2109G>C MANE Select	ENSP00000290866.4:p.Gln703His
ENST00000290863.10:c.387G>C	ENSP00000290863.6:p.Gln129His
ENST00000290866.9:c.2109G>C	ENSP00000290866.4:p.Gln703His
ENST00000413513.7:c.387G>C	ENSP00000392247.3:p.Gln129His
ENST00000428043.5:c.2109G>C	ENSP00000397593.2:p.Gln703His
ENST00000577647.2:c.387G>C	ENSP00000464149.1:p.Gln129His
ENST00000578839.5:c.*179G>C	ENSP00000462110.2:n.*179G>C
ENST00000579204.1:c.290G>C	ENSP00000464629.1:n.290G>C
ENST00000579314.5:c.387G>C	ENSP00000462599.1:p.Gln129His
ENST00000579726.5:c.671G>C
ENST00000582005.5:c.*29G>C	ENSP00000462002.1:n.*29G>C
NM_000789.3:c.2109G>C	NP_000780.1:p.Gln703His
NM_001178057.1:c.387G>C	NP_001171528.1:p.Gln129His
NM_152830.2:c.387G>C	NP_690043.1:p.Gln129His
XM_005257110.1:c.1560G>C	XP_005257167.1:p.Gln520His
XM_006721737.2:c.447G>C	XP_006721800.2:p.Gln149His
XM_006721737.3:c.447G>C	XP_006721800.2:p.Gln149His
NM_000789.4:c.2109G>C MANE Select	NP_000780.1:p.Gln703His
NM_001178057.2:c.387G>C	NP_001171528.1:p.Gln129His
NM_152830.3:c.387G>C	NP_690043.1:p.Gln129His
NM_001382700.1:c.1542G>C	NP_001369629.1:p.Gln514His
NM_001382701.1:c.1257G>C	NP_001369630.1:p.Gln419His
NM_001382702.1:c.39G>C	NP_001369631.1:p.Gln13His
NR_168483.1:n.409G>C