Canonical Allele Identifier: CA400568482

Gene: ACE

Linked Data

• gnomAD v4: 17-63497178-T-G
• MyVariant Identifiers: chr17:g.61574539T>G (hg19) ; chr17:g.63497178T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3733T>G MANE Select	ENSP00000290866.4:p.Phe1245Val
ENST00000290863.10:c.2011T>G	ENSP00000290863.6:p.Phe671Val
ENST00000290866.9:c.3733T>G	ENSP00000290866.4:p.Phe1245Val
ENST00000413513.7:c.1888T>G	ENSP00000392247.3:p.Phe630Val
ENST00000428043.5:c.*155T>G	ENSP00000397593.2:n.*155T>G
ENST00000577647.2:c.1969+193T>G	ENSP00000464149.1:n.1969+193T>G
ENST00000578839.5:c.*1488T>G	ENSP00000462110.2:n.*1488T>G
ENST00000579314.5:c.*1462T>G	ENSP00000462599.1:n.*1462T>G
NM_000789.3:c.3733T>G	NP_000780.1:p.Phe1245Val
NM_001178057.1:c.1888T>G	NP_001171528.1:p.Phe630Val
NM_152830.2:c.2011T>G	NP_690043.1:p.Phe671Val
XM_005257110.1:c.3184T>G	XP_005257167.1:p.Phe1062Val
XM_006721737.2:c.2071T>G	XP_006721800.2:p.Phe691Val
XM_006721737.3:c.2071T>G	XP_006721800.2:p.Phe691Val
NM_000789.4:c.3733T>G MANE Select	NP_000780.1:p.Phe1245Val
NM_001178057.2:c.1888T>G	NP_001171528.1:p.Phe630Val
NM_152830.3:c.2011T>G	NP_690043.1:p.Phe671Val
NM_001382700.1:c.3166T>G	NP_001369629.1:p.Phe1056Val
NM_001382701.1:c.2881T>G	NP_001369630.1:p.Phe961Val
NM_001382702.1:c.1348T>G	NP_001369631.1:p.Phe450Val
NR_168483.1:n.2111T>G