Canonical Allele Identifier: CA400568706

Gene: ACE

Linked Data

• gnomAD v4: 17-63497206-A-G
• MyVariant Identifiers: chr17:g.61574567A>G (hg19) ; chr17:g.63497206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497206A>G , CM000679.2:g.63497206A>G	GRCh38
NC_000017.10:g.61574567A>G , CM000679.1:g.61574567A>G	GRCh37
NC_000017.9:g.58928299A>G	NCBI36
NG_011648.1:g.25134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3761A>G MANE Select	ENSP00000290866.4:p.Gln1254Arg
ENST00000290863.10:c.2039A>G	ENSP00000290863.6:p.Gln680Arg
ENST00000290866.9:c.3761A>G	ENSP00000290866.4:p.Gln1254Arg
ENST00000413513.7:c.1916A>G	ENSP00000392247.3:p.Gln639Arg
ENST00000428043.5:c.*183A>G	ENSP00000397593.2:n.*183A>G
ENST00000577647.2:c.1969+221A>G	ENSP00000464149.1:n.1969+221A>G
ENST00000578839.5:c.*1516A>G	ENSP00000462110.2:n.*1516A>G
ENST00000579314.5:c.*1490A>G	ENSP00000462599.1:n.*1490A>G
NM_000789.3:c.3761A>G	NP_000780.1:p.Gln1254Arg
NM_001178057.1:c.1916A>G	NP_001171528.1:p.Gln639Arg
NM_152830.2:c.2039A>G	NP_690043.1:p.Gln680Arg
XM_005257110.1:c.3212A>G	XP_005257167.1:p.Gln1071Arg
XM_006721737.2:c.2099A>G	XP_006721800.2:p.Gln700Arg
XM_006721737.3:c.2099A>G	XP_006721800.2:p.Gln700Arg
NM_000789.4:c.3761A>G MANE Select	NP_000780.1:p.Gln1254Arg
NM_001178057.2:c.1916A>G	NP_001171528.1:p.Gln639Arg
NM_152830.3:c.2039A>G	NP_690043.1:p.Gln680Arg
NM_001382700.1:c.3194A>G	NP_001369629.1:p.Gln1065Arg
NM_001382701.1:c.2909A>G	NP_001369630.1:p.Gln970Arg
NM_001382702.1:c.1376A>G	NP_001369631.1:p.Gln459Arg
NR_168483.1:n.2139A>G