Canonical Allele Identifier: CA400557963

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566093C>A (hg19) ; chr17:g.63488732C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488732C>A , CM000679.2:g.63488732C>A	GRCh38
NC_000017.10:g.61566093C>A , CM000679.1:g.61566093C>A	GRCh37
NC_000017.9:g.58919825C>A	NCBI36
NG_011648.1:g.16660C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2390C>A MANE Select	ENSP00000290866.4:p.Ala797Asp
ENST00000290863.10:c.668C>A	ENSP00000290863.6:p.Ala223Asp
ENST00000290866.9:c.2390C>A	ENSP00000290866.4:p.Ala797Asp
ENST00000413513.7:c.668C>A	ENSP00000392247.3:p.Ala223Asp
ENST00000428043.5:c.2390C>A	ENSP00000397593.2:p.Ala797Asp
ENST00000577647.2:c.668C>A	ENSP00000464149.1:p.Ala223Asp
ENST00000578839.5:c.*460C>A	ENSP00000462110.2:n.*460C>A
ENST00000579204.1:c.649C>A	ENSP00000464629.1:n.649C>A
ENST00000579314.5:c.*119C>A	ENSP00000462599.1:n.*119C>A
ENST00000582005.5:c.*310C>A	ENSP00000462002.1:n.*310C>A
ENST00000582761.1:c.158C>A	ENSP00000462909.1:p.Ala53Asp
ENST00000584865.5:n.336C>A
NM_000789.3:c.2390C>A	NP_000780.1:p.Ala797Asp
NM_001178057.1:c.668C>A	NP_001171528.1:p.Ala223Asp
NM_152830.2:c.668C>A	NP_690043.1:p.Ala223Asp
XM_005257110.1:c.1841C>A	XP_005257167.1:p.Ala614Asp
XM_006721737.2:c.728C>A	XP_006721800.2:p.Ala243Asp
XM_006721737.3:c.728C>A	XP_006721800.2:p.Ala243Asp
NM_000789.4:c.2390C>A MANE Select	NP_000780.1:p.Ala797Asp
NM_001178057.2:c.668C>A	NP_001171528.1:p.Ala223Asp
NM_152830.3:c.668C>A	NP_690043.1:p.Ala223Asp
NM_001382700.1:c.1823C>A	NP_001369629.1:p.Ala608Asp
NM_001382701.1:c.1538C>A	NP_001369630.1:p.Ala513Asp
NM_001382702.1:c.320C>A	NP_001369631.1:p.Ala107Asp
NR_168483.1:n.768C>A