Canonical Allele Identifier: CA400569541

Gene: ACE

Linked Data

• gnomAD v4: 17-63497322-C-A
• MyVariant Identifiers: chr17:g.61574683C>A (hg19) ; chr17:g.63497322C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497322C>A , CM000679.2:g.63497322C>A	GRCh38
NC_000017.10:g.61574683C>A , CM000679.1:g.61574683C>A	GRCh37
NC_000017.9:g.58928415C>A	NCBI36
NG_011648.1:g.25250C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3877C>A MANE Select	ENSP00000290866.4:p.His1293Asn
ENST00000290863.10:c.2155C>A	ENSP00000290863.6:p.His719Asn
ENST00000290866.9:c.3877C>A	ENSP00000290866.4:p.His1293Asn
ENST00000413513.7:c.2032C>A	ENSP00000392247.3:p.His678Asn
ENST00000428043.5:c.*299C>A	ENSP00000397593.2:n.*299C>A
ENST00000577647.2:c.1969+337C>A	ENSP00000464149.1:n.1969+337C>A
ENST00000578839.5:c.*1632C>A	ENSP00000462110.2:n.*1632C>A
ENST00000579314.5:c.*1606C>A	ENSP00000462599.1:n.*1606C>A
NM_000789.3:c.3877C>A	NP_000780.1:p.His1293Asn
NM_001178057.1:c.2032C>A	NP_001171528.1:p.His678Asn
NM_152830.2:c.2155C>A	NP_690043.1:p.His719Asn
XM_005257110.1:c.3328C>A	XP_005257167.1:p.His1110Asn
XM_006721737.2:c.2215C>A	XP_006721800.2:p.His739Asn
XM_006721737.3:c.2215C>A	XP_006721800.2:p.His739Asn
NM_000789.4:c.3877C>A MANE Select	NP_000780.1:p.His1293Asn
NM_001178057.2:c.2032C>A	NP_001171528.1:p.His678Asn
NM_152830.3:c.2155C>A	NP_690043.1:p.His719Asn
NM_001382700.1:c.3310C>A	NP_001369629.1:p.His1104Asn
NM_001382701.1:c.3025C>A	NP_001369630.1:p.His1009Asn
NM_001382702.1:c.1492C>A	NP_001369631.1:p.His498Asn
NR_168483.1:n.2255C>A