Canonical Allele Identifier: CA2269946124

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489033C= , CM000679.2:g.63489033C=	GRCh38
NC_000017.10:g.61566394C= , CM000679.1:g.61566394C=	GRCh37
NC_000017.9:g.58920126C=	NCBI36
NG_011648.1:g.16961C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2542C= MANE Select	ENSP00000290866.4:p.Leu848=
ENST00000290863.10:c.820C=	ENSP00000290863.6:p.Leu274=
ENST00000290866.9:c.2542C=	ENSP00000290866.4:p.Leu848=
ENST00000413513.7:c.820C=	ENSP00000392247.3:p.Leu274=
ENST00000428043.5:c.2542C=	ENSP00000397593.2:p.Leu848=
ENST00000577647.2:c.820C=	ENSP00000464149.1:p.Leu274=
ENST00000578839.5:c.*519+242C=	ENSP00000462110.2:n.*519+242C=
ENST00000579204.1:c.801C=	ENSP00000464629.1:n.801C=
ENST00000579314.5:c.*271C=	ENSP00000462599.1:n.*271C=
ENST00000582005.5:c.*462C=	ENSP00000462002.1:n.*462C=
ENST00000582761.1:c.310C=	ENSP00000462909.1:p.Leu104=
ENST00000584865.5:n.488C=
NM_000789.3:c.2542C=	NP_000780.1:p.Leu848=
NM_001178057.1:c.820C=	NP_001171528.1:p.Leu274=
NM_152830.2:c.820C=	NP_690043.1:p.Leu274=
XM_005257110.1:c.1993C=	XP_005257167.1:p.Leu665=
XM_006721737.2:c.880C=	XP_006721800.2:p.Leu294=
XM_006721737.3:c.880C=	XP_006721800.2:p.Leu294=
NM_000789.4:c.2542C= MANE Select	NP_000780.1:p.Leu848=
NM_001178057.2:c.820C=	NP_001171528.1:p.Leu274=
NM_152830.3:c.820C=	NP_690043.1:p.Leu274=
NM_001382700.1:c.1975C=	NP_001369629.1:p.Leu659=
NM_001382701.1:c.1690C=	NP_001369630.1:p.Leu564=
NM_001382702.1:c.379+242C=	NP_001369631.1:n.379+242C=
NR_168483.1:n.920C=