Canonical Allele Identifier: CA501342389

Gene: ACE

Linked Data

• gnomAD v4: 17-63497261-C-G
• MyVariant Identifiers: chr17:g.61574622C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497261C>G , CM000679.2:g.63497261C>G	GRCh38
NC_000017.10:g.61574622C>G , CM000679.1:g.61574622C>G	GRCh37
NC_000017.9:g.58928354C>G	NCBI36
NG_011648.1:g.25189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3816C>G MANE Select	ENSP00000290866.4:p.Ala1272=
ENST00000290863.10:c.2094C>G	ENSP00000290863.6:p.Ala698=
ENST00000290866.9:c.3816C>G	ENSP00000290866.4:p.Ala1272=
ENST00000413513.7:c.1971C>G	ENSP00000392247.3:p.Ala657=
ENST00000428043.5:c.*238C>G	ENSP00000397593.2:n.*238C>G
ENST00000577647.2:c.1969+276C>G	ENSP00000464149.1:n.1969+276C>G
ENST00000578839.5:c.*1571C>G	ENSP00000462110.2:n.*1571C>G
ENST00000579314.5:c.*1545C>G	ENSP00000462599.1:n.*1545C>G
NM_000789.3:c.3816C>G	NP_000780.1:p.Ala1272=
NM_001178057.1:c.1971C>G	NP_001171528.1:p.Ala657=
NM_152830.2:c.2094C>G	NP_690043.1:p.Ala698=
XM_005257110.1:c.3267C>G	XP_005257167.1:p.Ala1089=
XM_006721737.2:c.2154C>G	XP_006721800.2:p.Ala718=
XM_006721737.3:c.2154C>G	XP_006721800.2:p.Ala718=
NM_000789.4:c.3816C>G MANE Select	NP_000780.1:p.Ala1272=
NM_001178057.2:c.1971C>G	NP_001171528.1:p.Ala657=
NM_152830.3:c.2094C>G	NP_690043.1:p.Ala698=
NM_001382700.1:c.3249C>G	NP_001369629.1:p.Ala1083=
NM_001382701.1:c.2964C>G	NP_001369630.1:p.Ala988=
NM_001382702.1:c.1431C>G	NP_001369631.1:p.Ala477=
NR_168483.1:n.2194C>G