Canonical Allele Identifier: CA2269940268

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478030C= , CM000679.2:g.63478030C=	GRCh38
NC_000017.10:g.61555391C= , CM000679.1:g.61555391C=	GRCh37
NC_000017.9:g.58909123C=	NCBI36
NG_011648.1:g.5958C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.349C= MANE Select	ENSP00000290866.4:p.Leu117=
ENST00000290866.9:c.349C=	ENSP00000290866.4:p.Leu117=
ENST00000428043.5:c.349C=	ENSP00000397593.2:p.Leu117=
ENST00000579462.1:n.374C=
ENST00000580318.1:n.538C=
ENST00000582627.1:c.349C=	ENSP00000462280.1:p.Leu117=
ENST00000582678.5:c.349C=	ENSP00000462995.1:p.Leu117=
ENST00000583336.5:n.383C=
ENST00000584529.5:n.383C=
NM_000789.3:c.349C=	NP_000780.1:p.Leu117=
XM_005257110.1:c.-107C=	XP_005257167.1:n.-107C=
NM_000789.4:c.349C= MANE Select	NP_000780.1:p.Leu117=
NM_001382700.1:c.114C=	NP_001369629.1:p.Ser38=
NM_001382701.1:c.-266C=	NP_001369630.1:n.-266C=