Canonical Allele Identifier: CA8700069

Gene: ACE

Linked Data

• dbSNP Id: rs775934699
• ExAC: 17:61566064 G / A
• gnomAD v2: 17-61566064-G-A
• gnomAD v4: 17-63488703-G-A
• MyVariant Identifiers: chr17:g.61566064G>A (hg19) ; chr17:g.63488703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488703G>A , CM000679.2:g.63488703G>A	GRCh38
NC_000017.10:g.61566064G>A , CM000679.1:g.61566064G>A	GRCh37
NC_000017.9:g.58919796G>A	NCBI36
NG_011648.1:g.16631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2361G>A MANE Select	ENSP00000290866.4:p.Trp787Ter
ENST00000290863.10:c.639G>A	ENSP00000290863.6:p.Trp213Ter
ENST00000290866.9:c.2361G>A	ENSP00000290866.4:p.Trp787Ter
ENST00000413513.7:c.639G>A	ENSP00000392247.3:p.Trp213Ter
ENST00000428043.5:c.2361G>A	ENSP00000397593.2:p.Trp787Ter
ENST00000577647.2:c.639G>A	ENSP00000464149.1:p.Trp213Ter
ENST00000578839.5:c.*431G>A	ENSP00000462110.2:n.*431G>A
ENST00000579204.1:c.620G>A	ENSP00000464629.1:n.620G>A
ENST00000579314.5:c.*90G>A	ENSP00000462599.1:n.*90G>A
ENST00000582005.5:c.*281G>A	ENSP00000462002.1:n.*281G>A
ENST00000582761.1:c.129G>A	ENSP00000462909.1:p.Trp43Ter
ENST00000584865.5:n.307G>A
NM_000789.3:c.2361G>A	NP_000780.1:p.Trp787Ter
NM_001178057.1:c.639G>A	NP_001171528.1:p.Trp213Ter
NM_152830.2:c.639G>A	NP_690043.1:p.Trp213Ter
XM_005257110.1:c.1812G>A	XP_005257167.1:p.Trp604Ter
XM_006721737.2:c.699G>A	XP_006721800.2:p.Trp233Ter
XM_006721737.3:c.699G>A	XP_006721800.2:p.Trp233Ter
NM_000789.4:c.2361G>A MANE Select	NP_000780.1:p.Trp787Ter
NM_001178057.2:c.639G>A	NP_001171528.1:p.Trp213Ter
NM_152830.3:c.639G>A	NP_690043.1:p.Trp213Ter
NM_001382700.1:c.1794G>A	NP_001369629.1:p.Trp598Ter
NM_001382701.1:c.1509G>A	NP_001369630.1:p.Trp503Ter
NM_001382702.1:c.291G>A	NP_001369631.1:p.Trp97Ter
NR_168483.1:n.739G>A