Canonical Allele Identifier: CA501342423

Gene: ACE

Linked Data

• gnomAD v4: 17-63497285-C-A
• MyVariant Identifiers: chr17:g.61574646C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497285C>A , CM000679.2:g.63497285C>A	GRCh38
NC_000017.10:g.61574646C>A , CM000679.1:g.61574646C>A	GRCh37
NC_000017.9:g.58928378C>A	NCBI36
NG_011648.1:g.25213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3840C>A MANE Select	ENSP00000290866.4:p.Leu1280=
ENST00000290863.10:c.2118C>A	ENSP00000290863.6:p.Leu706=
ENST00000290866.9:c.3840C>A	ENSP00000290866.4:p.Leu1280=
ENST00000413513.7:c.1995C>A	ENSP00000392247.3:p.Leu665=
ENST00000428043.5:c.*262C>A	ENSP00000397593.2:n.*262C>A
ENST00000577647.2:c.1969+300C>A	ENSP00000464149.1:n.1969+300C>A
ENST00000578839.5:c.*1595C>A	ENSP00000462110.2:n.*1595C>A
ENST00000579314.5:c.*1569C>A	ENSP00000462599.1:n.*1569C>A
NM_000789.3:c.3840C>A	NP_000780.1:p.Leu1280=
NM_001178057.1:c.1995C>A	NP_001171528.1:p.Leu665=
NM_152830.2:c.2118C>A	NP_690043.1:p.Leu706=
XM_005257110.1:c.3291C>A	XP_005257167.1:p.Leu1097=
XM_006721737.2:c.2178C>A	XP_006721800.2:p.Leu726=
XM_006721737.3:c.2178C>A	XP_006721800.2:p.Leu726=
NM_000789.4:c.3840C>A MANE Select	NP_000780.1:p.Leu1280=
NM_001178057.2:c.1995C>A	NP_001171528.1:p.Leu665=
NM_152830.3:c.2118C>A	NP_690043.1:p.Leu706=
NM_001382700.1:c.3273C>A	NP_001369629.1:p.Leu1091=
NM_001382701.1:c.2988C>A	NP_001369630.1:p.Leu996=
NM_001382702.1:c.1455C>A	NP_001369631.1:p.Leu485=
NR_168483.1:n.2218C>A