Canonical Allele Identifier: CA2269947677
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63492371G>C , CM000679.2:g.63492371G>C GRCh38
NC_000017.10:g.61569732G>C , CM000679.1:g.61569732G>C GRCh37
NC_000017.9:g.58923464G>C NCBI36
NG_011648.1:g.20299G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.2912+990G>C MANE Select ENSP00000290866.4:n.2912+990G>C
ENST00000290863.10:c.1190+990G>C ENSP00000290863.6:n.1190+990G>C
ENST00000290866.9:c.2912+990G>C ENSP00000290866.4:n.2912+990G>C
ENST00000413513.7:c.1190+990G>C ENSP00000392247.3:n.1190+990G>C
ENST00000428043.5:c.2912+990G>C ENSP00000397593.2:n.2912+990G>C
ENST00000577418.5:n.147-1551G>C
ENST00000577647.2:c.1190+990G>C ENSP00000464149.1:n.1190+990G>C
ENST00000578839.5:c.*790+990G>C ENSP00000462110.2:n.*790+990G>C
ENST00000579314.5:c.*641+990G>C ENSP00000462599.1:n.*641+990G>C
ENST00000582761.1:c.667+1003G>C ENSP00000462909.1:n.667+1003G>C
ENST00000583645.1:n.877+990G>C
ENST00000584865.5:n.858+990G>C
NM_000789.3:c.2912+990G>C NP_000780.1:n.2912+990G>C
NM_001178057.1:c.1190+990G>C NP_001171528.1:n.1190+990G>C
NM_152830.2:c.1190+990G>C NP_690043.1:n.1190+990G>C
XM_005257110.1:c.2363+990G>C XP_005257167.1:n.2363+990G>C
XM_006721737.2:c.1250+990G>C XP_006721800.2:n.1250+990G>C
XM_006721737.3:c.1250+990G>C XP_006721800.2:n.1250+990G>C
NM_000789.4:c.2912+990G>C MANE Select NP_000780.1:n.2912+990G>C
NM_001178057.2:c.1190+990G>C NP_001171528.1:n.1190+990G>C
NM_152830.3:c.1190+990G>C NP_690043.1:n.1190+990G>C
NM_001382700.1:c.2345+990G>C NP_001369629.1:n.2345+990G>C
NM_001382701.1:c.2060+990G>C NP_001369630.1:n.2060+990G>C
NM_001382702.1:c.650+990G>C NP_001369631.1:n.650+990G>C
NR_168483.1:n.1290+990G>C