Canonical Allele Identifier: CA400569271

Gene: ACE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3853C>G MANE Select	ENSP00000290866.4:p.His1285Asp
ENST00000290863.10:c.2131C>G	ENSP00000290863.6:p.His711Asp
ENST00000290866.9:c.3853C>G	ENSP00000290866.4:p.His1285Asp
ENST00000413513.7:c.2008C>G	ENSP00000392247.3:p.His670Asp
ENST00000428043.5:c.*275C>G	ENSP00000397593.2:n.*275C>G
ENST00000577647.2:c.1969+313C>G	ENSP00000464149.1:n.1969+313C>G
ENST00000578839.5:c.*1608C>G	ENSP00000462110.2:n.*1608C>G
ENST00000579314.5:c.*1582C>G	ENSP00000462599.1:n.*1582C>G
NM_000789.3:c.3853C>G	NP_000780.1:p.His1285Asp
NM_001178057.1:c.2008C>G	NP_001171528.1:p.His670Asp
NM_152830.2:c.2131C>G	NP_690043.1:p.His711Asp
XM_005257110.1:c.3304C>G	XP_005257167.1:p.His1102Asp
XM_006721737.2:c.2191C>G	XP_006721800.2:p.His731Asp
XM_006721737.3:c.2191C>G	XP_006721800.2:p.His731Asp
NM_000789.4:c.3853C>G MANE Select	NP_000780.1:p.His1285Asp
NM_001178057.2:c.2008C>G	NP_001171528.1:p.His670Asp
NM_152830.3:c.2131C>G	NP_690043.1:p.His711Asp
NM_001382700.1:c.3286C>G	NP_001369629.1:p.His1096Asp
NM_001382701.1:c.3001C>G	NP_001369630.1:p.His1001Asp
NM_001382702.1:c.1468C>G	NP_001369631.1:p.His490Asp
NR_168483.1:n.2231C>G