Canonical Allele Identifier: CA2269945935

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488666C= , CM000679.2:g.63488666C=	GRCh38
NC_000017.10:g.61566027C= , CM000679.1:g.61566027C=	GRCh37
NC_000017.9:g.58919759C=	NCBI36
NG_011648.1:g.16594C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2324C= MANE Select	ENSP00000290866.4:p.Ala775=
ENST00000290863.10:c.602C=	ENSP00000290863.6:p.Ala201=
ENST00000290866.9:c.2324C=	ENSP00000290866.4:p.Ala775=
ENST00000413513.7:c.602C=	ENSP00000392247.3:p.Ala201=
ENST00000428043.5:c.2324C=	ENSP00000397593.2:p.Ala775=
ENST00000577647.2:c.602C=	ENSP00000464149.1:p.Ala201=
ENST00000578839.5:c.*394C=	ENSP00000462110.2:n.*394C=
ENST00000579204.1:c.583C=	ENSP00000464629.1:n.583C=
ENST00000579314.5:c.*53C=	ENSP00000462599.1:n.*53C=
ENST00000582005.5:c.*244C=	ENSP00000462002.1:n.*244C=
ENST00000582761.1:c.92C=	ENSP00000462909.1:p.Ala31=
ENST00000584865.5:n.270C=
NM_000789.3:c.2324C=	NP_000780.1:p.Ala775=
NM_001178057.1:c.602C=	NP_001171528.1:p.Ala201=
NM_152830.2:c.602C=	NP_690043.1:p.Ala201=
XM_005257110.1:c.1775C=	XP_005257167.1:p.Ala592=
XM_006721737.2:c.662C=	XP_006721800.2:p.Ala221=
XM_006721737.3:c.662C=	XP_006721800.2:p.Ala221=
NM_000789.4:c.2324C= MANE Select	NP_000780.1:p.Ala775=
NM_001178057.2:c.602C=	NP_001171528.1:p.Ala201=
NM_152830.3:c.602C=	NP_690043.1:p.Ala201=
NM_001382700.1:c.1757C=	NP_001369629.1:p.Ala586=
NM_001382701.1:c.1472C=	NP_001369630.1:p.Ala491=
NM_001382702.1:c.254C=	NP_001369631.1:p.Ala85=
NR_168483.1:n.702C=