Canonical Allele Identifier: CA400550506

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483494C>G , CM000679.2:g.63483494C>G	GRCh38
NC_000017.10:g.61560855C>G , CM000679.1:g.61560855C>G	GRCh37
NC_000017.9:g.58914587C>G	NCBI36
NG_011648.1:g.11422C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1522C>G MANE Select	NP_000780.1:p.Arg508Gly
ENST00000290866.10:c.1522C>G MANE Select	ENSP00000290866.4:p.Arg508Gly
NM_000789.3:c.1522C>G	NP_000780.1:p.Arg508Gly
NM_001382700.1:c.955C>G	NP_001369629.1:p.Arg319Gly
NM_001382701.1:c.670C>G	NP_001369630.1:p.Arg224Gly
ENST00000290866.9:c.1522C>G	ENSP00000290866.4:p.Arg508Gly
ENST00000428043.5:c.1522C>G	ENSP00000397593.2:p.Arg508Gly
ENST00000582678.5:c.*921C>G	ENSP00000462995.1:n.*921C>G
ENST00000584529.5:n.1411C>G
XM_005257110.1:c.973C>G	XP_005257167.1:p.Arg325Gly