Canonical Allele Identifier: CA400568944

Gene: ACE

Linked Data

• gnomAD v4: 17-63497248-C-A
• MyVariant Identifiers: chr17:g.61574609C>A (hg19) ; chr17:g.63497248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497248C>A , CM000679.2:g.63497248C>A	GRCh38
NC_000017.10:g.61574609C>A , CM000679.1:g.61574609C>A	GRCh37
NC_000017.9:g.58928341C>A	NCBI36
NG_011648.1:g.25176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3803C>A MANE Select	ENSP00000290866.4:p.Ala1268Asp
ENST00000290863.10:c.2081C>A	ENSP00000290863.6:p.Ala694Asp
ENST00000290866.9:c.3803C>A	ENSP00000290866.4:p.Ala1268Asp
ENST00000413513.7:c.1958C>A	ENSP00000392247.3:p.Ala653Asp
ENST00000428043.5:c.*225C>A	ENSP00000397593.2:n.*225C>A
ENST00000577647.2:c.1969+263C>A	ENSP00000464149.1:n.1969+263C>A
ENST00000578839.5:c.*1558C>A	ENSP00000462110.2:n.*1558C>A
ENST00000579314.5:c.*1532C>A	ENSP00000462599.1:n.*1532C>A
NM_000789.3:c.3803C>A	NP_000780.1:p.Ala1268Asp
NM_001178057.1:c.1958C>A	NP_001171528.1:p.Ala653Asp
NM_152830.2:c.2081C>A	NP_690043.1:p.Ala694Asp
XM_005257110.1:c.3254C>A	XP_005257167.1:p.Ala1085Asp
XM_006721737.2:c.2141C>A	XP_006721800.2:p.Ala714Asp
XM_006721737.3:c.2141C>A	XP_006721800.2:p.Ala714Asp
NM_000789.4:c.3803C>A MANE Select	NP_000780.1:p.Ala1268Asp
NM_001178057.2:c.1958C>A	NP_001171528.1:p.Ala653Asp
NM_152830.3:c.2081C>A	NP_690043.1:p.Ala694Asp
NM_001382700.1:c.3236C>A	NP_001369629.1:p.Ala1079Asp
NM_001382701.1:c.2951C>A	NP_001369630.1:p.Ala984Asp
NM_001382702.1:c.1418C>A	NP_001369631.1:p.Ala473Asp
NR_168483.1:n.2181C>A