Canonical Allele Identifier: CA501184548

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564049A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486688A>T , CM000679.2:g.63486688A>T	GRCh38
NC_000017.10:g.61564049A>T , CM000679.1:g.61564049A>T	GRCh37
NC_000017.9:g.58917781A>T	NCBI36
NG_011648.1:g.14616A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2190A>T MANE Select	ENSP00000290866.4:p.Ala730=
ENST00000290863.10:c.468A>T	ENSP00000290863.6:p.Ala156=
ENST00000290866.9:c.2190A>T	ENSP00000290866.4:p.Ala730=
ENST00000413513.7:c.468A>T	ENSP00000392247.3:p.Ala156=
ENST00000428043.5:c.2190A>T	ENSP00000397593.2:p.Ala730=
ENST00000577647.2:c.468A>T	ENSP00000464149.1:p.Ala156=
ENST00000578839.5:c.*260A>T	ENSP00000462110.2:n.*260A>T
ENST00000579204.1:c.371A>T	ENSP00000464629.1:n.371A>T
ENST00000579314.5:c.468A>T	ENSP00000462599.1:p.Ala156=
ENST00000579726.5:c.752A>T
ENST00000582005.5:c.*110A>T	ENSP00000462002.1:n.*110A>T
NM_000789.3:c.2190A>T	NP_000780.1:p.Ala730=
NM_001178057.1:c.468A>T	NP_001171528.1:p.Ala156=
NM_152830.2:c.468A>T	NP_690043.1:p.Ala156=
XM_005257110.1:c.1641A>T	XP_005257167.1:p.Ala547=
XM_006721737.2:c.528A>T	XP_006721800.2:p.Ala176=
XM_006721737.3:c.528A>T	XP_006721800.2:p.Ala176=
NM_000789.4:c.2190A>T MANE Select	NP_000780.1:p.Ala730=
NM_001178057.2:c.468A>T	NP_001171528.1:p.Ala156=
NM_152830.3:c.468A>T	NP_690043.1:p.Ala156=
NM_001382700.1:c.1623A>T	NP_001369629.1:p.Ala541=
NM_001382701.1:c.1338A>T	NP_001369630.1:p.Ala446=
NM_001382702.1:c.120A>T	NP_001369631.1:p.Ala40=
NR_168483.1:n.490A>T