Canonical Allele Identifier: CA400569658

Gene: ACE

Linked Data

• dbSNP Id: rs4981
• gnomAD v2: 17-61574693-A-G
• gnomAD v4: 17-63497332-A-G
• MyVariant Identifiers: chr17:g.61574693A>G (hg19) ; chr17:g.63497332A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497332A>G , CM000679.2:g.63497332A>G	GRCh38
NC_000017.10:g.61574693A>G , CM000679.1:g.61574693A>G	GRCh37
NC_000017.9:g.58928425A>G	NCBI36
NG_011648.1:g.25260A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3887A>G MANE Select	ENSP00000290866.4:p.Gln1296Arg
ENST00000290863.10:c.2165A>G	ENSP00000290863.6:p.Gln722Arg
ENST00000290866.9:c.3887A>G	ENSP00000290866.4:p.Gln1296Arg
ENST00000413513.7:c.2042A>G	ENSP00000392247.3:p.Gln681Arg
ENST00000428043.5:c.*309A>G	ENSP00000397593.2:n.*309A>G
ENST00000577647.2:c.1969+347A>G	ENSP00000464149.1:n.1969+347A>G
ENST00000578839.5:c.*1642A>G	ENSP00000462110.2:n.*1642A>G
ENST00000579314.5:c.*1616A>G	ENSP00000462599.1:n.*1616A>G
NM_000789.3:c.3887A>G	NP_000780.1:p.Gln1296Arg
NM_001178057.1:c.2042A>G	NP_001171528.1:p.Gln681Arg
NM_152830.2:c.2165A>G	NP_690043.1:p.Gln722Arg
XM_005257110.1:c.3338A>G	XP_005257167.1:p.Gln1113Arg
XM_006721737.2:c.2225A>G	XP_006721800.2:p.Gln742Arg
XM_006721737.3:c.2225A>G	XP_006721800.2:p.Gln742Arg
NM_000789.4:c.3887A>G MANE Select	NP_000780.1:p.Gln1296Arg
NM_001178057.2:c.2042A>G	NP_001171528.1:p.Gln681Arg
NM_152830.3:c.2165A>G	NP_690043.1:p.Gln722Arg
NM_001382700.1:c.3320A>G	NP_001369629.1:p.Gln1107Arg
NM_001382701.1:c.3035A>G	NP_001369630.1:p.Gln1012Arg
NM_001382702.1:c.1502A>G	NP_001369631.1:p.Gln501Arg
NR_168483.1:n.2265A>G