Canonical Allele Identifier: CA8700509

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496502C>T , CM000679.2:g.63496502C>T	GRCh38
NC_000017.10:g.61573863C>T , CM000679.1:g.61573863C>T	GRCh37
NC_000017.9:g.58927595C>T	NCBI36
NG_011648.1:g.24430C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.3489C>T MANE Select	NP_000780.1:p.Ala1163=
ENST00000290866.10:c.3489C>T MANE Select	ENSP00000290866.4:p.Ala1163=
NM_000789.3:c.3489C>T	NP_000780.1:p.Ala1163=
NM_001178057.1:c.1659-296C>T	NP_001171528.1:n.1659-296C>T
NM_001178057.2:c.1659-296C>T	NP_001171528.1:n.1659-296C>T
NM_001382700.1:c.2922C>T	NP_001369629.1:p.Ala974=
NM_001382701.1:c.2637C>T	NP_001369630.1:p.Ala879=
NM_001382702.1:c.1119-296C>T	NP_001369631.1:n.1119-296C>T
NM_152830.2:c.1767C>T	NP_690043.1:p.Ala589=
NM_152830.3:c.1767C>T	NP_690043.1:p.Ala589=
NR_168483.1:n.1867C>T
ENST00000290863.10:c.1767C>T	ENSP00000290863.6:p.Ala589=
ENST00000290866.9:c.3489C>T	ENSP00000290866.4:p.Ala1163=
ENST00000413513.7:c.1659-296C>T	ENSP00000392247.3:n.1659-296C>T
ENST00000428043.5:c.3489C>T	ENSP00000397593.2:p.Ala1163=
ENST00000577418.5:n.499C>T
ENST00000577647.2:c.1767C>T	ENSP00000464149.1:p.Ala589=
ENST00000578839.5:c.*1259-296C>T	ENSP00000462110.2:n.*1259-296C>T
ENST00000579314.5:c.*1218C>T	ENSP00000462599.1:n.*1218C>T
ENST00000579409.1:c.176C>T
ENST00000582244.1:n.363C>T
XM_005257110.1:c.2940C>T	XP_005257167.1:p.Ala980=
XM_006721737.2:c.1827C>T	XP_006721800.2:p.Ala609=
XM_006721737.3:c.1827C>T	XP_006721800.2:p.Ala609=