Canonical Allele Identifier: CA8700136
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs777098855

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63488983C>T , CM000679.2:g.63488983C>T GRCh38
NC_000017.10:g.61566344C>T , CM000679.1:g.61566344C>T GRCh37
NC_000017.9:g.58920076C>T NCBI36
NG_011648.1:g.16911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.2492C>T MANE Select ENSP00000290866.4:p.Thr831Ile
ENST00000290863.10:c.770C>T ENSP00000290863.6:p.Thr257Ile
ENST00000290866.9:c.2492C>T ENSP00000290866.4:p.Thr831Ile
ENST00000413513.7:c.770C>T ENSP00000392247.3:p.Thr257Ile
ENST00000428043.5:c.2492C>T ENSP00000397593.2:p.Thr831Ile
ENST00000577647.2:c.770C>T ENSP00000464149.1:p.Thr257Ile
ENST00000578839.5:c.*519+192C>T ENSP00000462110.2:n.*519+192C>T
ENST00000579204.1:c.751C>T ENSP00000464629.1:n.751C>T
ENST00000579314.5:c.*221C>T ENSP00000462599.1:n.*221C>T
ENST00000582005.5:c.*412C>T ENSP00000462002.1:n.*412C>T
ENST00000582761.1:c.260C>T ENSP00000462909.1:p.Thr87Ile
ENST00000584865.5:n.438C>T
NM_000789.3:c.2492C>T NP_000780.1:p.Thr831Ile
NM_001178057.1:c.770C>T NP_001171528.1:p.Thr257Ile
NM_152830.2:c.770C>T NP_690043.1:p.Thr257Ile
XM_005257110.1:c.1943C>T XP_005257167.1:p.Thr648Ile
XM_006721737.2:c.830C>T XP_006721800.2:p.Thr277Ile
XM_006721737.3:c.830C>T XP_006721800.2:p.Thr277Ile
NM_000789.4:c.2492C>T MANE Select NP_000780.1:p.Thr831Ile
NM_001178057.2:c.770C>T NP_001171528.1:p.Thr257Ile
NM_152830.3:c.770C>T NP_690043.1:p.Thr257Ile
NM_001382700.1:c.1925C>T NP_001369629.1:p.Thr642Ile
NM_001382701.1:c.1640C>T NP_001369630.1:p.Thr547Ile
NM_001382702.1:c.379+192C>T NP_001369631.1:n.379+192C>T
NR_168483.1:n.870C>T