Canonical Allele Identifier: CA8699949

Gene: ACE

Linked Data

• ClinVar Variation Id: 2063803
• ClinVar RCV Id: RCV002942975
• dbSNP Id: rs371010069
• ExAC: 17:61564015 G / A
• gnomAD v2: 17-61564015-G-A
• gnomAD v3: 17-63486654-G-A
• gnomAD v4: 17-63486654-G-A
• MyVariant Identifiers: chr17:g.61564015G>A (hg19) ; chr17:g.63486654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486654G>A , CM000679.2:g.63486654G>A	GRCh38
NC_000017.10:g.61564015G>A , CM000679.1:g.61564015G>A	GRCh37
NC_000017.9:g.58917747G>A	NCBI36
NG_011648.1:g.14582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2156G>A MANE Select	ENSP00000290866.4:p.Arg719Gln
ENST00000290863.10:c.434G>A	ENSP00000290863.6:p.Arg145Gln
ENST00000290866.9:c.2156G>A	ENSP00000290866.4:p.Arg719Gln
ENST00000413513.7:c.434G>A	ENSP00000392247.3:p.Arg145Gln
ENST00000428043.5:c.2156G>A	ENSP00000397593.2:p.Arg719Gln
ENST00000577647.2:c.434G>A	ENSP00000464149.1:p.Arg145Gln
ENST00000578839.5:c.*226G>A	ENSP00000462110.2:n.*226G>A
ENST00000579204.1:c.337G>A	ENSP00000464629.1:n.337G>A
ENST00000579314.5:c.434G>A	ENSP00000462599.1:p.Arg145Gln
ENST00000579726.5:c.718G>A
ENST00000582005.5:c.*76G>A	ENSP00000462002.1:n.*76G>A
NM_000789.3:c.2156G>A	NP_000780.1:p.Arg719Gln
NM_001178057.1:c.434G>A	NP_001171528.1:p.Arg145Gln
NM_152830.2:c.434G>A	NP_690043.1:p.Arg145Gln
XM_005257110.1:c.1607G>A	XP_005257167.1:p.Arg536Gln
XM_006721737.2:c.494G>A	XP_006721800.2:p.Arg165Gln
XM_006721737.3:c.494G>A	XP_006721800.2:p.Arg165Gln
NM_000789.4:c.2156G>A MANE Select	NP_000780.1:p.Arg719Gln
NM_001178057.2:c.434G>A	NP_001171528.1:p.Arg145Gln
NM_152830.3:c.434G>A	NP_690043.1:p.Arg145Gln
NM_001382700.1:c.1589G>A	NP_001369629.1:p.Arg530Gln
NM_001382701.1:c.1304G>A	NP_001369630.1:p.Arg435Gln
NM_001382702.1:c.86G>A	NP_001369631.1:p.Arg29Gln
NR_168483.1:n.456G>A