Canonical Allele Identifier: CA8700676

Gene: ACE

Linked Data

• dbSNP Id: rs4980
• ExAC: 17:61574642 G / C
• gnomAD v2: 17-61574642-G-C
• gnomAD v4: 17-63497281-G-C
• MyVariant Identifiers: chr17:g.61574642G>C (hg19) ; chr17:g.63497281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497281G>C , CM000679.2:g.63497281G>C	GRCh38
NC_000017.10:g.61574642G>C , CM000679.1:g.61574642G>C	GRCh37
NC_000017.9:g.58928374G>C	NCBI36
NG_011648.1:g.25209G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3836G>C MANE Select	ENSP00000290866.4:p.Arg1279Pro
ENST00000290863.10:c.2114G>C	ENSP00000290863.6:p.Arg705Pro
ENST00000290866.9:c.3836G>C	ENSP00000290866.4:p.Arg1279Pro
ENST00000413513.7:c.1991G>C	ENSP00000392247.3:p.Arg664Pro
ENST00000428043.5:c.*258G>C	ENSP00000397593.2:n.*258G>C
ENST00000577647.2:c.1969+296G>C	ENSP00000464149.1:n.1969+296G>C
ENST00000578839.5:c.*1591G>C	ENSP00000462110.2:n.*1591G>C
ENST00000579314.5:c.*1565G>C	ENSP00000462599.1:n.*1565G>C
NM_000789.3:c.3836G>C	NP_000780.1:p.Arg1279Pro
NM_001178057.1:c.1991G>C	NP_001171528.1:p.Arg664Pro
NM_152830.2:c.2114G>C	NP_690043.1:p.Arg705Pro
XM_005257110.1:c.3287G>C	XP_005257167.1:p.Arg1096Pro
XM_006721737.2:c.2174G>C	XP_006721800.2:p.Arg725Pro
XM_006721737.3:c.2174G>C	XP_006721800.2:p.Arg725Pro
NM_000789.4:c.3836G>C MANE Select	NP_000780.1:p.Arg1279Pro
NM_001178057.2:c.1991G>C	NP_001171528.1:p.Arg664Pro
NM_152830.3:c.2114G>C	NP_690043.1:p.Arg705Pro
NM_001382700.1:c.3269G>C	NP_001369629.1:p.Arg1090Pro
NM_001382701.1:c.2984G>C	NP_001369630.1:p.Arg995Pro
NM_001382702.1:c.1451G>C	NP_001369631.1:p.Arg484Pro
NR_168483.1:n.2214G>C