Canonical Allele Identifier: CA8699215
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63480395C>T , CM000679.2:g.63480395C>T GRCh38
NC_000017.10:g.61557756C>T , CM000679.1:g.61557756C>T GRCh37
NC_000017.9:g.58911488C>T NCBI36
NG_011648.1:g.8323C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.714C>T MANE Select ENSP00000290866.4:p.Asp238=
ENST00000290866.9:c.714C>T ENSP00000290866.4:p.Asp238=
ENST00000428043.5:c.714C>T ENSP00000397593.2:p.Asp238=
ENST00000580318.1:n.903C>T
ENST00000582627.1:c.714C>T ENSP00000462280.1:p.Asp238=
ENST00000582678.5:c.*113C>T ENSP00000462995.1:n.*113C>T
ENST00000584529.5:n.748C>T
NM_000789.3:c.714C>T NP_000780.1:p.Asp238=
XM_005257110.1:c.165C>T XP_005257167.1:p.Asp55=
NM_000789.4:c.714C>T MANE Select NP_000780.1:p.Asp238=
NM_001382700.1:c.241C>T NP_001369629.1:p.Arg81Ter
NM_001382701.1:c.-139C>T NP_001369630.1:n.-139C>T