Canonical Allele Identifier: CA400568869

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574597T>G (hg19) ; chr17:g.63497236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497236T>G , CM000679.2:g.63497236T>G	GRCh38
NC_000017.10:g.61574597T>G , CM000679.1:g.61574597T>G	GRCh37
NC_000017.9:g.58928329T>G	NCBI36
NG_011648.1:g.25164T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3791T>G MANE Select	ENSP00000290866.4:p.Phe1264Cys
ENST00000290863.10:c.2069T>G	ENSP00000290863.6:p.Phe690Cys
ENST00000290866.9:c.3791T>G	ENSP00000290866.4:p.Phe1264Cys
ENST00000413513.7:c.1946T>G	ENSP00000392247.3:p.Phe649Cys
ENST00000428043.5:c.*213T>G	ENSP00000397593.2:n.*213T>G
ENST00000577647.2:c.1969+251T>G	ENSP00000464149.1:n.1969+251T>G
ENST00000578839.5:c.*1546T>G	ENSP00000462110.2:n.*1546T>G
ENST00000579314.5:c.*1520T>G	ENSP00000462599.1:n.*1520T>G
NM_000789.3:c.3791T>G	NP_000780.1:p.Phe1264Cys
NM_001178057.1:c.1946T>G	NP_001171528.1:p.Phe649Cys
NM_152830.2:c.2069T>G	NP_690043.1:p.Phe690Cys
XM_005257110.1:c.3242T>G	XP_005257167.1:p.Phe1081Cys
XM_006721737.2:c.2129T>G	XP_006721800.2:p.Phe710Cys
XM_006721737.3:c.2129T>G	XP_006721800.2:p.Phe710Cys
NM_000789.4:c.3791T>G MANE Select	NP_000780.1:p.Phe1264Cys
NM_001178057.2:c.1946T>G	NP_001171528.1:p.Phe649Cys
NM_152830.3:c.2069T>G	NP_690043.1:p.Phe690Cys
NM_001382700.1:c.3224T>G	NP_001369629.1:p.Phe1075Cys
NM_001382701.1:c.2939T>G	NP_001369630.1:p.Phe980Cys
NM_001382702.1:c.1406T>G	NP_001369631.1:p.Phe469Cys
NR_168483.1:n.2169T>G