Canonical Allele Identifier: CA501187986

Gene: ACE

Linked Data

• dbSNP Id: rs1378906822
• COSMIC: COSM982598 ; COSM1153133
• MyVariant Identifiers: chr17:g.61566372G>A (hg19) ; chr17:g.63489011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489011G>A , CM000679.2:g.63489011G>A	GRCh38
NC_000017.10:g.61566372G>A , CM000679.1:g.61566372G>A	GRCh37
NC_000017.9:g.58920104G>A	NCBI36
NG_011648.1:g.16939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2520G>A MANE Select	ENSP00000290866.4:p.Arg840=
ENST00000290863.10:c.798G>A	ENSP00000290863.6:p.Arg266=
ENST00000290866.9:c.2520G>A	ENSP00000290866.4:p.Arg840=
ENST00000413513.7:c.798G>A	ENSP00000392247.3:p.Arg266=
ENST00000428043.5:c.2520G>A	ENSP00000397593.2:p.Arg840=
ENST00000577647.2:c.798G>A	ENSP00000464149.1:p.Arg266=
ENST00000578839.5:c.*519+220G>A	ENSP00000462110.2:n.*519+220G>A
ENST00000579204.1:c.779G>A	ENSP00000464629.1:n.779G>A
ENST00000579314.5:c.*249G>A	ENSP00000462599.1:n.*249G>A
ENST00000582005.5:c.*440G>A	ENSP00000462002.1:n.*440G>A
ENST00000582761.1:c.288G>A	ENSP00000462909.1:p.Arg96=
ENST00000584865.5:n.466G>A
NM_000789.3:c.2520G>A	NP_000780.1:p.Arg840=
NM_001178057.1:c.798G>A	NP_001171528.1:p.Arg266=
NM_152830.2:c.798G>A	NP_690043.1:p.Arg266=
XM_005257110.1:c.1971G>A	XP_005257167.1:p.Arg657=
XM_006721737.2:c.858G>A	XP_006721800.2:p.Arg286=
XM_006721737.3:c.858G>A	XP_006721800.2:p.Arg286=
NM_000789.4:c.2520G>A MANE Select	NP_000780.1:p.Arg840=
NM_001178057.2:c.798G>A	NP_001171528.1:p.Arg266=
NM_152830.3:c.798G>A	NP_690043.1:p.Arg266=
NM_001382700.1:c.1953G>A	NP_001369629.1:p.Arg651=
NM_001382701.1:c.1668G>A	NP_001369630.1:p.Arg556=
NM_001382702.1:c.379+220G>A	NP_001369631.1:n.379+220G>A
NR_168483.1:n.898G>A