Canonical Allele Identifier: CA2269950054
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497314G= , CM000679.2:g.63497314G= GRCh38
NC_000017.10:g.61574675G= , CM000679.1:g.61574675G= GRCh37
NC_000017.9:g.58928407G= NCBI36
NG_011648.1:g.25242G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3869G= MANE Select ENSP00000290866.4:p.Arg1290=
ENST00000290863.10:c.2147G= ENSP00000290863.6:p.Arg716=
ENST00000290866.9:c.3869G= ENSP00000290866.4:p.Arg1290=
ENST00000413513.7:c.2024G= ENSP00000392247.3:p.Arg675=
ENST00000428043.5:c.*291G= ENSP00000397593.2:n.*291G=
ENST00000577647.2:c.1969+329G= ENSP00000464149.1:n.1969+329G=
ENST00000578839.5:c.*1624G= ENSP00000462110.2:n.*1624G=
ENST00000579314.5:c.*1598G= ENSP00000462599.1:n.*1598G=
NM_000789.3:c.3869G= NP_000780.1:p.Arg1290=
NM_001178057.1:c.2024G= NP_001171528.1:p.Arg675=
NM_152830.2:c.2147G= NP_690043.1:p.Arg716=
XM_005257110.1:c.3320G= XP_005257167.1:p.Arg1107=
XM_006721737.2:c.2207G= XP_006721800.2:p.Arg736=
XM_006721737.3:c.2207G= XP_006721800.2:p.Arg736=
NM_000789.4:c.3869G= MANE Select NP_000780.1:p.Arg1290=
NM_001178057.2:c.2024G= NP_001171528.1:p.Arg675=
NM_152830.3:c.2147G= NP_690043.1:p.Arg716=
NM_001382700.1:c.3302G= NP_001369629.1:p.Arg1101=
NM_001382701.1:c.3017G= NP_001369630.1:p.Arg1006=
NM_001382702.1:c.1484G= NP_001369631.1:p.Arg495=
NR_168483.1:n.2247G=