Canonical Allele Identifier: CA127773
Gene: ACE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18062
ClinVar RCV Id: RCV000019685
dbSNP Id: rs121912703

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63496977C>T , CM000679.2:g.63496977C>T GRCh38
NC_000017.10:g.61574338C>T , CM000679.1:g.61574338C>T GRCh37
NC_000017.9:g.58928070C>T NCBI36
NG_011648.1:g.24905C>T

Transcript Alleles

HGVS Amino-acid change
NM_000789.3:c.3683C>T VV NP_000780.1:p.Pro1228Leu
NM_001178057.1:c.1838C>T VV NP_001171528.1:p.Pro613Leu
NM_152830.2:c.1961C>T VV NP_690043.1:p.Pro654Leu
XM_005257110.1:c.3134C>T XP_005257167.1:p.Pro1045Leu
XM_006721737.2:c.2021C>T XP_006721800.2:p.Pro674Leu
XM_006721737.3:c.2021C>T XP_006721800.2:p.Pro674Leu
NM_000789.4:c.3683C>T VV MANE Preferred NP_000780.1:p.Pro1228Leu
ENST00000290863.10:c.1961C>T ENSP00000290863.6:p.Pro654Leu
ENST00000290866.9:c.3683C>T ENSP00000290866.4:p.Pro1228Leu
ENST00000413513.7:c.1838C>T ENSP00000392247.3:p.Pro613Leu
ENST00000428043.5:c.3683C>T ENSP00000397593.2:p.Pro1228Leu
ENST00000577418.5:n.693C>T
ENST00000577647.2:c.1961C>T ENSP00000464149.1:p.Pro654Leu
ENST00000578839.5:c.*1438C>T ENSP00000462110.2:p.=
ENST00000579314.5:c.*1412C>T ENSP00000462599.1:p.=
ENST00000579409.1:n.370C>T
ENST00000582244.1:n.557C>T