Canonical Allele Identifier: CA8700645

Gene: ACE

Linked Data

• dbSNP Id: rs749019292
• ExAC: 17:61574523 C / G
• gnomAD v2: 17-61574523-C-G
• MyVariant Identifiers: chr17:g.61574523C>G (hg19) ; chr17:g.63497162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497162C>G , CM000679.2:g.63497162C>G	GRCh38
NC_000017.10:g.61574523C>G , CM000679.1:g.61574523C>G	GRCh37
NC_000017.9:g.58928255C>G	NCBI36
NG_011648.1:g.25090C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3717C>G MANE Select	ENSP00000290866.4:p.Asp1239Glu
ENST00000290863.10:c.1995C>G	ENSP00000290863.6:p.Asp665Glu
ENST00000290866.9:c.3717C>G	ENSP00000290866.4:p.Asp1239Glu
ENST00000413513.7:c.1872C>G	ENSP00000392247.3:p.Asp624Glu
ENST00000428043.5:c.*139C>G	ENSP00000397593.2:n.*139C>G
ENST00000577418.5:n.727C>G
ENST00000577647.2:c.1969+177C>G	ENSP00000464149.1:n.1969+177C>G
ENST00000578839.5:c.*1472C>G	ENSP00000462110.2:n.*1472C>G
ENST00000579314.5:c.*1446C>G	ENSP00000462599.1:n.*1446C>G
NM_000789.3:c.3717C>G	NP_000780.1:p.Asp1239Glu
NM_001178057.1:c.1872C>G	NP_001171528.1:p.Asp624Glu
NM_152830.2:c.1995C>G	NP_690043.1:p.Asp665Glu
XM_005257110.1:c.3168C>G	XP_005257167.1:p.Asp1056Glu
XM_006721737.2:c.2055C>G	XP_006721800.2:p.Asp685Glu
XM_006721737.3:c.2055C>G	XP_006721800.2:p.Asp685Glu
NM_000789.4:c.3717C>G MANE Select	NP_000780.1:p.Asp1239Glu
NM_001178057.2:c.1872C>G	NP_001171528.1:p.Asp624Glu
NM_152830.3:c.1995C>G	NP_690043.1:p.Asp665Glu
NM_001382700.1:c.3150C>G	NP_001369629.1:p.Asp1050Glu
NM_001382701.1:c.2865C>G	NP_001369630.1:p.Asp955Glu
NM_001382702.1:c.1332C>G	NP_001369631.1:p.Asp444Glu
NR_168483.1:n.2095C>G