Canonical Allele Identifier: CA400557987

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566104T>G (hg19) ; chr17:g.63488743T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488743T>G , CM000679.2:g.63488743T>G	GRCh38
NC_000017.10:g.61566104T>G , CM000679.1:g.61566104T>G	GRCh37
NC_000017.9:g.58919836T>G	NCBI36
NG_011648.1:g.16671T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2401T>G MANE Select	ENSP00000290866.4:p.Phe801Val
ENST00000290863.10:c.679T>G	ENSP00000290863.6:p.Phe227Val
ENST00000290866.9:c.2401T>G	ENSP00000290866.4:p.Phe801Val
ENST00000413513.7:c.679T>G	ENSP00000392247.3:p.Phe227Val
ENST00000428043.5:c.2401T>G	ENSP00000397593.2:p.Phe801Val
ENST00000577647.2:c.679T>G	ENSP00000464149.1:p.Phe227Val
ENST00000578839.5:c.*471T>G	ENSP00000462110.2:n.*471T>G
ENST00000579204.1:c.660T>G	ENSP00000464629.1:n.660T>G
ENST00000579314.5:c.*130T>G	ENSP00000462599.1:n.*130T>G
ENST00000582005.5:c.*321T>G	ENSP00000462002.1:n.*321T>G
ENST00000582761.1:c.169T>G	ENSP00000462909.1:p.Phe57Val
ENST00000584865.5:n.347T>G
NM_000789.3:c.2401T>G	NP_000780.1:p.Phe801Val
NM_001178057.1:c.679T>G	NP_001171528.1:p.Phe227Val
NM_152830.2:c.679T>G	NP_690043.1:p.Phe227Val
XM_005257110.1:c.1852T>G	XP_005257167.1:p.Phe618Val
XM_006721737.2:c.739T>G	XP_006721800.2:p.Phe247Val
XM_006721737.3:c.739T>G	XP_006721800.2:p.Phe247Val
NM_000789.4:c.2401T>G MANE Select	NP_000780.1:p.Phe801Val
NM_001178057.2:c.679T>G	NP_001171528.1:p.Phe227Val
NM_152830.3:c.679T>G	NP_690043.1:p.Phe227Val
NM_001382700.1:c.1834T>G	NP_001369629.1:p.Phe612Val
NM_001382701.1:c.1549T>G	NP_001369630.1:p.Phe517Val
NM_001382702.1:c.331T>G	NP_001369631.1:p.Phe111Val
NR_168483.1:n.779T>G