Canonical Allele Identifier: CA2269941489
Community Standard Title: NM_000789.4(ACE):c.798C= (p.Tyr266=)
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63480479C= , CM000679.2:g.63480479C= GRCh38
NC_000017.10:g.61557840C= , CM000679.1:g.61557840C= GRCh37
NC_000017.9:g.58911572C= NCBI36
NG_011648.1:g.8407C=

Transcript Alleles

HGVS Amino-acid Change
NM_000789.4:c.798C= MANE Select NP_000780.1:p.Tyr266=
ENST00000290866.10:c.798C= MANE Select ENSP00000290866.4:p.Tyr266=
NM_000789.3:c.798C= NP_000780.1:p.Tyr266=
NM_001382700.1:c.325C= NP_001369629.1:p.Arg109=
NM_001382701.1:c.-55C= NP_001369630.1:n.-55C=
ENST00000290866.9:c.798C= ENSP00000290866.4:p.Tyr266=
ENST00000428043.5:c.798C= ENSP00000397593.2:p.Tyr266=
ENST00000582627.1:c.798C= ENSP00000462280.1:p.Tyr266=
ENST00000582678.5:c.*197C= ENSP00000462995.1:n.*197C=
ENST00000584529.5:n.832C=
XM_005257110.1:c.249C= XP_005257167.1:p.Tyr83=