Canonical Allele Identifier: CA400569173
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497286T>C , CM000679.2:g.63497286T>C GRCh38
NC_000017.10:g.61574647T>C , CM000679.1:g.61574647T>C GRCh37
NC_000017.9:g.58928379T>C NCBI36
NG_011648.1:g.25214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3841T>C MANE Select ENSP00000290866.4:p.Phe1281Leu
ENST00000290863.10:c.2119T>C ENSP00000290863.6:p.Phe707Leu
ENST00000290866.9:c.3841T>C ENSP00000290866.4:p.Phe1281Leu
ENST00000413513.7:c.1996T>C ENSP00000392247.3:p.Phe666Leu
ENST00000428043.5:c.*263T>C ENSP00000397593.2:n.*263T>C
ENST00000577647.2:c.1969+301T>C ENSP00000464149.1:n.1969+301T>C
ENST00000578839.5:c.*1596T>C ENSP00000462110.2:n.*1596T>C
ENST00000579314.5:c.*1570T>C ENSP00000462599.1:n.*1570T>C
NM_000789.3:c.3841T>C NP_000780.1:p.Phe1281Leu
NM_001178057.1:c.1996T>C NP_001171528.1:p.Phe666Leu
NM_152830.2:c.2119T>C NP_690043.1:p.Phe707Leu
XM_005257110.1:c.3292T>C XP_005257167.1:p.Phe1098Leu
XM_006721737.2:c.2179T>C XP_006721800.2:p.Phe727Leu
XM_006721737.3:c.2179T>C XP_006721800.2:p.Phe727Leu
NM_000789.4:c.3841T>C MANE Select NP_000780.1:p.Phe1281Leu
NM_001178057.2:c.1996T>C NP_001171528.1:p.Phe666Leu
NM_152830.3:c.2119T>C NP_690043.1:p.Phe707Leu
NM_001382700.1:c.3274T>C NP_001369629.1:p.Phe1092Leu
NM_001382701.1:c.2989T>C NP_001369630.1:p.Phe997Leu
NM_001382702.1:c.1456T>C NP_001369631.1:p.Phe486Leu
NR_168483.1:n.2219T>C