Canonical Allele Identifier: CA400569269

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574659C>A (hg19) ; chr17:g.63497298C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497298C>A , CM000679.2:g.63497298C>A	GRCh38
NC_000017.10:g.61574659C>A , CM000679.1:g.61574659C>A	GRCh37
NC_000017.9:g.58928391C>A	NCBI36
NG_011648.1:g.25226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3853C>A MANE Select	ENSP00000290866.4:p.His1285Asn
ENST00000290863.10:c.2131C>A	ENSP00000290863.6:p.His711Asn
ENST00000290866.9:c.3853C>A	ENSP00000290866.4:p.His1285Asn
ENST00000413513.7:c.2008C>A	ENSP00000392247.3:p.His670Asn
ENST00000428043.5:c.*275C>A	ENSP00000397593.2:n.*275C>A
ENST00000577647.2:c.1969+313C>A	ENSP00000464149.1:n.1969+313C>A
ENST00000578839.5:c.*1608C>A	ENSP00000462110.2:n.*1608C>A
ENST00000579314.5:c.*1582C>A	ENSP00000462599.1:n.*1582C>A
NM_000789.3:c.3853C>A	NP_000780.1:p.His1285Asn
NM_001178057.1:c.2008C>A	NP_001171528.1:p.His670Asn
NM_152830.2:c.2131C>A	NP_690043.1:p.His711Asn
XM_005257110.1:c.3304C>A	XP_005257167.1:p.His1102Asn
XM_006721737.2:c.2191C>A	XP_006721800.2:p.His731Asn
XM_006721737.3:c.2191C>A	XP_006721800.2:p.His731Asn
NM_000789.4:c.3853C>A MANE Select	NP_000780.1:p.His1285Asn
NM_001178057.2:c.2008C>A	NP_001171528.1:p.His670Asn
NM_152830.3:c.2131C>A	NP_690043.1:p.His711Asn
NM_001382700.1:c.3286C>A	NP_001369629.1:p.His1096Asn
NM_001382701.1:c.3001C>A	NP_001369630.1:p.His1001Asn
NM_001382702.1:c.1468C>A	NP_001369631.1:p.His490Asn
NR_168483.1:n.2231C>A