Canonical Allele Identifier: CA2269945963

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488723C= , CM000679.2:g.63488723C=	GRCh38
NC_000017.10:g.61566084C= , CM000679.1:g.61566084C=	GRCh37
NC_000017.9:g.58919816C=	NCBI36
NG_011648.1:g.16651C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2381C= MANE Select	ENSP00000290866.4:p.Ala794=
ENST00000290863.10:c.659C=	ENSP00000290863.6:p.Ala220=
ENST00000290866.9:c.2381C=	ENSP00000290866.4:p.Ala794=
ENST00000413513.7:c.659C=	ENSP00000392247.3:p.Ala220=
ENST00000428043.5:c.2381C=	ENSP00000397593.2:p.Ala794=
ENST00000577647.2:c.659C=	ENSP00000464149.1:p.Ala220=
ENST00000578839.5:c.*451C=	ENSP00000462110.2:n.*451C=
ENST00000579204.1:c.640C=	ENSP00000464629.1:n.640C=
ENST00000579314.5:c.*110C=	ENSP00000462599.1:n.*110C=
ENST00000582005.5:c.*301C=	ENSP00000462002.1:n.*301C=
ENST00000582761.1:c.149C=	ENSP00000462909.1:p.Ala50=
ENST00000584865.5:n.327C=
NM_000789.3:c.2381C=	NP_000780.1:p.Ala794=
NM_001178057.1:c.659C=	NP_001171528.1:p.Ala220=
NM_152830.2:c.659C=	NP_690043.1:p.Ala220=
XM_005257110.1:c.1832C=	XP_005257167.1:p.Ala611=
XM_006721737.2:c.719C=	XP_006721800.2:p.Ala240=
XM_006721737.3:c.719C=	XP_006721800.2:p.Ala240=
NM_000789.4:c.2381C= MANE Select	NP_000780.1:p.Ala794=
NM_001178057.2:c.659C=	NP_001171528.1:p.Ala220=
NM_152830.3:c.659C=	NP_690043.1:p.Ala220=
NM_001382700.1:c.1814C=	NP_001369629.1:p.Ala605=
NM_001382701.1:c.1529C=	NP_001369630.1:p.Ala510=
NM_001382702.1:c.311C=	NP_001369631.1:p.Ala104=
NR_168483.1:n.759C=