Canonical Allele Identifier: CA501341522
Gene: ACE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.61555423G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63478062G>A , CM000679.2:g.63478062G>A GRCh38
NC_000017.10:g.61555423G>A , CM000679.1:g.61555423G>A GRCh37
NC_000017.9:g.58909155G>A NCBI36
NG_011648.1:g.5990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.381G>A MANE Select ENSP00000290866.4:p.Leu127=
ENST00000290866.9:c.381G>A ENSP00000290866.4:p.Leu127=
ENST00000428043.5:c.381G>A ENSP00000397593.2:p.Leu127=
ENST00000579462.1:n.406G>A
ENST00000580318.1:n.570G>A
ENST00000582627.1:c.381G>A ENSP00000462280.1:p.Leu127=
ENST00000582678.5:c.381G>A ENSP00000462995.1:p.Leu127=
ENST00000583336.5:n.415G>A
ENST00000584529.5:n.415G>A
NM_000789.3:c.381G>A NP_000780.1:p.Leu127=
XM_005257110.1:c.-75G>A XP_005257167.1:n.-75G>A
NM_000789.4:c.381G>A MANE Select NP_000780.1:p.Leu127=
NM_001382700.1:c.146G>A NP_001369629.1:p.Trp49Ter
NM_001382701.1:c.-234G>A NP_001369630.1:n.-234G>A