Canonical Allele Identifier: CA400568589

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574553C>A (hg19) ; chr17:g.63497192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497192C>A , CM000679.2:g.63497192C>A	GRCh38
NC_000017.10:g.61574553C>A , CM000679.1:g.61574553C>A	GRCh37
NC_000017.9:g.58928285C>A	NCBI36
NG_011648.1:g.25120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3747C>A MANE Select	ENSP00000290866.4:p.Asp1249Glu
ENST00000290863.10:c.2025C>A	ENSP00000290863.6:p.Asp675Glu
ENST00000290866.9:c.3747C>A	ENSP00000290866.4:p.Asp1249Glu
ENST00000413513.7:c.1902C>A	ENSP00000392247.3:p.Asp634Glu
ENST00000428043.5:c.*169C>A	ENSP00000397593.2:n.*169C>A
ENST00000577647.2:c.1969+207C>A	ENSP00000464149.1:n.1969+207C>A
ENST00000578839.5:c.*1502C>A	ENSP00000462110.2:n.*1502C>A
ENST00000579314.5:c.*1476C>A	ENSP00000462599.1:n.*1476C>A
NM_000789.3:c.3747C>A	NP_000780.1:p.Asp1249Glu
NM_001178057.1:c.1902C>A	NP_001171528.1:p.Asp634Glu
NM_152830.2:c.2025C>A	NP_690043.1:p.Asp675Glu
XM_005257110.1:c.3198C>A	XP_005257167.1:p.Asp1066Glu
XM_006721737.2:c.2085C>A	XP_006721800.2:p.Asp695Glu
XM_006721737.3:c.2085C>A	XP_006721800.2:p.Asp695Glu
NM_000789.4:c.3747C>A MANE Select	NP_000780.1:p.Asp1249Glu
NM_001178057.2:c.1902C>A	NP_001171528.1:p.Asp634Glu
NM_152830.3:c.2025C>A	NP_690043.1:p.Asp675Glu
NM_001382700.1:c.3180C>A	NP_001369629.1:p.Asp1060Glu
NM_001382701.1:c.2895C>A	NP_001369630.1:p.Asp965Glu
NM_001382702.1:c.1362C>A	NP_001369631.1:p.Asp454Glu
NR_168483.1:n.2125C>A