Canonical Allele Identifier: CA400568982
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs1179455074

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497254T>C , CM000679.2:g.63497254T>C GRCh38
NC_000017.10:g.61574615T>C , CM000679.1:g.61574615T>C GRCh37
NC_000017.9:g.58928347T>C NCBI36
NG_011648.1:g.25182T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3809T>C MANE Select ENSP00000290866.4:p.Leu1270Pro
ENST00000290863.10:c.2087T>C ENSP00000290863.6:p.Leu696Pro
ENST00000290866.9:c.3809T>C ENSP00000290866.4:p.Leu1270Pro
ENST00000413513.7:c.1964T>C ENSP00000392247.3:p.Leu655Pro
ENST00000428043.5:c.*231T>C ENSP00000397593.2:n.*231T>C
ENST00000577647.2:c.1969+269T>C ENSP00000464149.1:n.1969+269T>C
ENST00000578839.5:c.*1564T>C ENSP00000462110.2:n.*1564T>C
ENST00000579314.5:c.*1538T>C ENSP00000462599.1:n.*1538T>C
NM_000789.3:c.3809T>C NP_000780.1:p.Leu1270Pro
NM_001178057.1:c.1964T>C NP_001171528.1:p.Leu655Pro
NM_152830.2:c.2087T>C NP_690043.1:p.Leu696Pro
XM_005257110.1:c.3260T>C XP_005257167.1:p.Leu1087Pro
XM_006721737.2:c.2147T>C XP_006721800.2:p.Leu716Pro
XM_006721737.3:c.2147T>C XP_006721800.2:p.Leu716Pro
NM_000789.4:c.3809T>C MANE Select NP_000780.1:p.Leu1270Pro
NM_001178057.2:c.1964T>C NP_001171528.1:p.Leu655Pro
NM_152830.3:c.2087T>C NP_690043.1:p.Leu696Pro
NM_001382700.1:c.3242T>C NP_001369629.1:p.Leu1081Pro
NM_001382701.1:c.2957T>C NP_001369630.1:p.Leu986Pro
NM_001382702.1:c.1424T>C NP_001369631.1:p.Leu475Pro
NR_168483.1:n.2187T>C