Canonical Allele Identifier: CA400568480

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574539T>A (hg19) ; chr17:g.63497178T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497178T>A , CM000679.2:g.63497178T>A	GRCh38
NC_000017.10:g.61574539T>A , CM000679.1:g.61574539T>A	GRCh37
NC_000017.9:g.58928271T>A	NCBI36
NG_011648.1:g.25106T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3733T>A MANE Select	ENSP00000290866.4:p.Phe1245Ile
ENST00000290863.10:c.2011T>A	ENSP00000290863.6:p.Phe671Ile
ENST00000290866.9:c.3733T>A	ENSP00000290866.4:p.Phe1245Ile
ENST00000413513.7:c.1888T>A	ENSP00000392247.3:p.Phe630Ile
ENST00000428043.5:c.*155T>A	ENSP00000397593.2:n.*155T>A
ENST00000577647.2:c.1969+193T>A	ENSP00000464149.1:n.1969+193T>A
ENST00000578839.5:c.*1488T>A	ENSP00000462110.2:n.*1488T>A
ENST00000579314.5:c.*1462T>A	ENSP00000462599.1:n.*1462T>A
NM_000789.3:c.3733T>A	NP_000780.1:p.Phe1245Ile
NM_001178057.1:c.1888T>A	NP_001171528.1:p.Phe630Ile
NM_152830.2:c.2011T>A	NP_690043.1:p.Phe671Ile
XM_005257110.1:c.3184T>A	XP_005257167.1:p.Phe1062Ile
XM_006721737.2:c.2071T>A	XP_006721800.2:p.Phe691Ile
XM_006721737.3:c.2071T>A	XP_006721800.2:p.Phe691Ile
NM_000789.4:c.3733T>A MANE Select	NP_000780.1:p.Phe1245Ile
NM_001178057.2:c.1888T>A	NP_001171528.1:p.Phe630Ile
NM_152830.3:c.2011T>A	NP_690043.1:p.Phe671Ile
NM_001382700.1:c.3166T>A	NP_001369629.1:p.Phe1056Ile
NM_001382701.1:c.2881T>A	NP_001369630.1:p.Phe961Ile
NM_001382702.1:c.1348T>A	NP_001369631.1:p.Phe450Ile
NR_168483.1:n.2111T>A