Canonical Allele Identifier: CA501185557

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564430G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487069G>A , CM000679.2:g.63487069G>A	GRCh38
NC_000017.10:g.61564430G>A , CM000679.1:g.61564430G>A	GRCh37
NC_000017.9:g.58918162G>A	NCBI36
NG_011648.1:g.14997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2301G>A MANE Select	ENSP00000290866.4:p.Glu767=
ENST00000290863.10:c.579G>A	ENSP00000290863.6:p.Glu193=
ENST00000290866.9:c.2301G>A	ENSP00000290866.4:p.Glu767=
ENST00000413513.7:c.579G>A	ENSP00000392247.3:p.Glu193=
ENST00000428043.5:c.2301G>A	ENSP00000397593.2:p.Glu767=
ENST00000577647.2:c.579G>A	ENSP00000464149.1:p.Glu193=
ENST00000578839.5:c.*371G>A	ENSP00000462110.2:n.*371G>A
ENST00000579204.1:c.482G>A	ENSP00000464629.1:n.482G>A
ENST00000579314.5:c.579G>A	ENSP00000462599.1:p.Glu193=
ENST00000579726.5:c.863G>A
ENST00000582005.5:c.*221G>A	ENSP00000462002.1:n.*221G>A
ENST00000582761.1:c.69G>A	ENSP00000462909.1:p.Glu23=
ENST00000584865.5:n.247G>A
NM_000789.3:c.2301G>A	NP_000780.1:p.Glu767=
NM_001178057.1:c.579G>A	NP_001171528.1:p.Glu193=
NM_152830.2:c.579G>A	NP_690043.1:p.Glu193=
XM_005257110.1:c.1752G>A	XP_005257167.1:p.Glu584=
XM_006721737.2:c.639G>A	XP_006721800.2:p.Glu213=
XM_006721737.3:c.639G>A	XP_006721800.2:p.Glu213=
NM_000789.4:c.2301G>A MANE Select	NP_000780.1:p.Glu767=
NM_001178057.2:c.579G>A	NP_001171528.1:p.Glu193=
NM_152830.3:c.579G>A	NP_690043.1:p.Glu193=
NM_001382700.1:c.1734G>A	NP_001369629.1:p.Glu578=
NM_001382701.1:c.1449G>A	NP_001369630.1:p.Glu483=
NM_001382702.1:c.231G>A	NP_001369631.1:p.Glu77=
NR_168483.1:n.601G>A