Canonical Allele Identifier: CA400569685

Gene: ACE

Linked Data

• gnomAD v4: 17-63497334-T-A
• MyVariant Identifiers: chr17:g.61574695T>A (hg19) ; chr17:g.63497334T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497334T>A , CM000679.2:g.63497334T>A	GRCh38
NC_000017.10:g.61574695T>A , CM000679.1:g.61574695T>A	GRCh37
NC_000017.9:g.58928427T>A	NCBI36
NG_011648.1:g.25262T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3889T>A MANE Select	ENSP00000290866.4:p.Phe1297Ile
ENST00000290863.10:c.2167T>A	ENSP00000290863.6:p.Phe723Ile
ENST00000290866.9:c.3889T>A	ENSP00000290866.4:p.Phe1297Ile
ENST00000413513.7:c.2044T>A	ENSP00000392247.3:p.Phe682Ile
ENST00000428043.5:c.*311T>A	ENSP00000397593.2:n.*311T>A
ENST00000577647.2:c.1969+349T>A	ENSP00000464149.1:n.1969+349T>A
ENST00000578839.5:c.*1644T>A	ENSP00000462110.2:n.*1644T>A
ENST00000579314.5:c.*1618T>A	ENSP00000462599.1:n.*1618T>A
NM_000789.3:c.3889T>A	NP_000780.1:p.Phe1297Ile
NM_001178057.1:c.2044T>A	NP_001171528.1:p.Phe682Ile
NM_152830.2:c.2167T>A	NP_690043.1:p.Phe723Ile
XM_005257110.1:c.3340T>A	XP_005257167.1:p.Phe1114Ile
XM_006721737.2:c.2227T>A	XP_006721800.2:p.Phe743Ile
XM_006721737.3:c.2227T>A	XP_006721800.2:p.Phe743Ile
NM_000789.4:c.3889T>A MANE Select	NP_000780.1:p.Phe1297Ile
NM_001178057.2:c.2044T>A	NP_001171528.1:p.Phe682Ile
NM_152830.3:c.2167T>A	NP_690043.1:p.Phe723Ile
NM_001382700.1:c.3322T>A	NP_001369629.1:p.Phe1108Ile
NM_001382701.1:c.3037T>A	NP_001369630.1:p.Phe1013Ile
NM_001382702.1:c.1504T>A	NP_001369631.1:p.Phe502Ile
NR_168483.1:n.2267T>A