Canonical Allele Identifier: CA2269945974

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488738T= , CM000679.2:g.63488738T=	GRCh38
NC_000017.10:g.61566099T= , CM000679.1:g.61566099T=	GRCh37
NC_000017.9:g.58919831T=	NCBI36
NG_011648.1:g.16666T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2396T= MANE Select	ENSP00000290866.4:p.Leu799=
ENST00000290863.10:c.674T=	ENSP00000290863.6:p.Leu225=
ENST00000290866.9:c.2396T=	ENSP00000290866.4:p.Leu799=
ENST00000413513.7:c.674T=	ENSP00000392247.3:p.Leu225=
ENST00000428043.5:c.2396T=	ENSP00000397593.2:p.Leu799=
ENST00000577647.2:c.674T=	ENSP00000464149.1:p.Leu225=
ENST00000578839.5:c.*466T=	ENSP00000462110.2:n.*466T=
ENST00000579204.1:c.655T=	ENSP00000464629.1:n.655T=
ENST00000579314.5:c.*125T=	ENSP00000462599.1:n.*125T=
ENST00000582005.5:c.*316T=	ENSP00000462002.1:n.*316T=
ENST00000582761.1:c.164T=	ENSP00000462909.1:p.Leu55=
ENST00000584865.5:n.342T=
NM_000789.3:c.2396T=	NP_000780.1:p.Leu799=
NM_001178057.1:c.674T=	NP_001171528.1:p.Leu225=
NM_152830.2:c.674T=	NP_690043.1:p.Leu225=
XM_005257110.1:c.1847T=	XP_005257167.1:p.Leu616=
XM_006721737.2:c.734T=	XP_006721800.2:p.Leu245=
XM_006721737.3:c.734T=	XP_006721800.2:p.Leu245=
NM_000789.4:c.2396T= MANE Select	NP_000780.1:p.Leu799=
NM_001178057.2:c.674T=	NP_001171528.1:p.Leu225=
NM_152830.3:c.674T=	NP_690043.1:p.Leu225=
NM_001382700.1:c.1829T=	NP_001369629.1:p.Leu610=
NM_001382701.1:c.1544T=	NP_001369630.1:p.Leu515=
NM_001382702.1:c.326T=	NP_001369631.1:p.Leu109=
NR_168483.1:n.774T=