Canonical Allele Identifier: CA400556533

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564348A>G (hg19) ; chr17:g.63486987A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486987A>G , CM000679.2:g.63486987A>G	GRCh38
NC_000017.10:g.61564348A>G , CM000679.1:g.61564348A>G	GRCh37
NC_000017.9:g.58918080A>G	NCBI36
NG_011648.1:g.14915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2219A>G MANE Select	ENSP00000290866.4:p.Tyr740Cys
ENST00000290863.10:c.497A>G	ENSP00000290863.6:p.Tyr166Cys
ENST00000290866.9:c.2219A>G	ENSP00000290866.4:p.Tyr740Cys
ENST00000413513.7:c.497A>G	ENSP00000392247.3:p.Tyr166Cys
ENST00000428043.5:c.2219A>G	ENSP00000397593.2:p.Tyr740Cys
ENST00000577647.2:c.497A>G	ENSP00000464149.1:p.Tyr166Cys
ENST00000578839.5:c.*289A>G	ENSP00000462110.2:n.*289A>G
ENST00000579204.1:c.400A>G	ENSP00000464629.1:n.400A>G
ENST00000579314.5:c.497A>G	ENSP00000462599.1:p.Tyr166Cys
ENST00000579726.5:c.781A>G
ENST00000582005.5:c.*139A>G	ENSP00000462002.1:n.*139A>G
ENST00000584865.5:n.165A>G
NM_000789.3:c.2219A>G	NP_000780.1:p.Tyr740Cys
NM_001178057.1:c.497A>G	NP_001171528.1:p.Tyr166Cys
NM_152830.2:c.497A>G	NP_690043.1:p.Tyr166Cys
XM_005257110.1:c.1670A>G	XP_005257167.1:p.Tyr557Cys
XM_006721737.2:c.557A>G	XP_006721800.2:p.Tyr186Cys
XM_006721737.3:c.557A>G	XP_006721800.2:p.Tyr186Cys
NM_000789.4:c.2219A>G MANE Select	NP_000780.1:p.Tyr740Cys
NM_001178057.2:c.497A>G	NP_001171528.1:p.Tyr166Cys
NM_152830.3:c.497A>G	NP_690043.1:p.Tyr166Cys
NM_001382700.1:c.1652A>G	NP_001369629.1:p.Tyr551Cys
NM_001382701.1:c.1367A>G	NP_001369630.1:p.Tyr456Cys
NM_001382702.1:c.149A>G	NP_001369631.1:p.Tyr50Cys
NR_168483.1:n.519A>G