Canonical Allele Identifier: CA501342257

Gene: ACE

Linked Data

• gnomAD v4: 17-63496798-G-A
• MyVariant Identifiers: chr17:g.61574159G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496798G>A , CM000679.2:g.63496798G>A	GRCh38
NC_000017.10:g.61574159G>A , CM000679.1:g.61574159G>A	GRCh37
NC_000017.9:g.58927891G>A	NCBI36
NG_011648.1:g.24726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3504G>A MANE Select	ENSP00000290866.4:p.Ala1168=
ENST00000290863.10:c.1782G>A	ENSP00000290863.6:p.Ala594=
ENST00000290866.9:c.3504G>A	ENSP00000290866.4:p.Ala1168=
ENST00000413513.7:c.1659G>A	ENSP00000392247.3:p.Arg553=
ENST00000428043.5:c.3504G>A	ENSP00000397593.2:p.Ala1168=
ENST00000577418.5:n.514G>A
ENST00000577647.2:c.1782G>A	ENSP00000464149.1:p.Ala594=
ENST00000578839.5:c.*1259G>A	ENSP00000462110.2:n.*1259G>A
ENST00000579314.5:c.*1233G>A	ENSP00000462599.1:n.*1233G>A
ENST00000579409.1:c.191G>A
ENST00000582244.1:n.378G>A
NM_000789.3:c.3504G>A	NP_000780.1:p.Ala1168=
NM_001178057.1:c.1659G>A	NP_001171528.1:p.Arg553=
NM_152830.2:c.1782G>A	NP_690043.1:p.Ala594=
XM_005257110.1:c.2955G>A	XP_005257167.1:p.Ala985=
XM_006721737.2:c.1842G>A	XP_006721800.2:p.Ala614=
XM_006721737.3:c.1842G>A	XP_006721800.2:p.Ala614=
NM_000789.4:c.3504G>A MANE Select	NP_000780.1:p.Ala1168=
NM_001178057.2:c.1659G>A	NP_001171528.1:p.Arg553=
NM_152830.3:c.1782G>A	NP_690043.1:p.Ala594=
NM_001382700.1:c.2937G>A	NP_001369629.1:p.Ala979=
NM_001382701.1:c.2652G>A	NP_001369630.1:p.Ala884=
NM_001382702.1:c.1119G>A	NP_001369631.1:p.Arg373=
NR_168483.1:n.1882G>A