Canonical Allele Identifier: CA400568472

Gene: ACE

Linked Data

• gnomAD v4: 17-63497176-G-A
• MyVariant Identifiers: chr17:g.61574537G>A (hg19) ; chr17:g.63497176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497176G>A , CM000679.2:g.63497176G>A	GRCh38
NC_000017.10:g.61574537G>A , CM000679.1:g.61574537G>A	GRCh37
NC_000017.9:g.58928269G>A	NCBI36
NG_011648.1:g.25104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3731G>A MANE Select	ENSP00000290866.4:p.Ser1244Asn
ENST00000290863.10:c.2009G>A	ENSP00000290863.6:p.Ser670Asn
ENST00000290866.9:c.3731G>A	ENSP00000290866.4:p.Ser1244Asn
ENST00000413513.7:c.1886G>A	ENSP00000392247.3:p.Ser629Asn
ENST00000428043.5:c.*153G>A	ENSP00000397593.2:n.*153G>A
ENST00000577647.2:c.1969+191G>A	ENSP00000464149.1:n.1969+191G>A
ENST00000578839.5:c.*1486G>A	ENSP00000462110.2:n.*1486G>A
ENST00000579314.5:c.*1460G>A	ENSP00000462599.1:n.*1460G>A
NM_000789.3:c.3731G>A	NP_000780.1:p.Ser1244Asn
NM_001178057.1:c.1886G>A	NP_001171528.1:p.Ser629Asn
NM_152830.2:c.2009G>A	NP_690043.1:p.Ser670Asn
XM_005257110.1:c.3182G>A	XP_005257167.1:p.Ser1061Asn
XM_006721737.2:c.2069G>A	XP_006721800.2:p.Ser690Asn
XM_006721737.3:c.2069G>A	XP_006721800.2:p.Ser690Asn
NM_000789.4:c.3731G>A MANE Select	NP_000780.1:p.Ser1244Asn
NM_001178057.2:c.1886G>A	NP_001171528.1:p.Ser629Asn
NM_152830.3:c.2009G>A	NP_690043.1:p.Ser670Asn
NM_001382700.1:c.3164G>A	NP_001369629.1:p.Ser1055Asn
NM_001382701.1:c.2879G>A	NP_001369630.1:p.Ser960Asn
NM_001382702.1:c.1346G>A	NP_001369631.1:p.Ser449Asn
NR_168483.1:n.2109G>A