Canonical Allele Identifier: CA8700059

Gene: ACE

Linked Data

• ClinVar Variation Id: 1514880
• ClinVar RCV Id: RCV002029621 ; RCV002507809
• dbSNP Id: rs143830698
• ExAC: 17:61566020 G / A
• gnomAD v2: 17-61566020-G-A
• gnomAD v3: 17-63488659-G-A
• gnomAD v4: 17-63488659-G-A
• MyVariant Identifiers: chr17:g.61566020G>A (hg19) ; chr17:g.63488659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488659G>A , CM000679.2:g.63488659G>A	GRCh38
NC_000017.10:g.61566020G>A , CM000679.1:g.61566020G>A	GRCh37
NC_000017.9:g.58919752G>A	NCBI36
NG_011648.1:g.16587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2317G>A MANE Select	ENSP00000290866.4:p.Val773Met
ENST00000290863.10:c.595G>A	ENSP00000290863.6:p.Val199Met
ENST00000290866.9:c.2317G>A	ENSP00000290866.4:p.Val773Met
ENST00000413513.7:c.595G>A	ENSP00000392247.3:p.Val199Met
ENST00000428043.5:c.2317G>A	ENSP00000397593.2:p.Val773Met
ENST00000577647.2:c.595G>A	ENSP00000464149.1:p.Val199Met
ENST00000578839.5:c.*387G>A	ENSP00000462110.2:n.*387G>A
ENST00000579204.1:c.576G>A	ENSP00000464629.1:n.576G>A
ENST00000579314.5:c.*46G>A	ENSP00000462599.1:n.*46G>A
ENST00000582005.5:c.*237G>A	ENSP00000462002.1:n.*237G>A
ENST00000582761.1:c.85G>A	ENSP00000462909.1:p.Val29Met
ENST00000584865.5:n.263G>A
NM_000789.3:c.2317G>A	NP_000780.1:p.Val773Met
NM_001178057.1:c.595G>A	NP_001171528.1:p.Val199Met
NM_152830.2:c.595G>A	NP_690043.1:p.Val199Met
XM_005257110.1:c.1768G>A	XP_005257167.1:p.Val590Met
XM_006721737.2:c.655G>A	XP_006721800.2:p.Val219Met
XM_006721737.3:c.655G>A	XP_006721800.2:p.Val219Met
NM_000789.4:c.2317G>A MANE Select	NP_000780.1:p.Val773Met
NM_001178057.2:c.595G>A	NP_001171528.1:p.Val199Met
NM_152830.3:c.595G>A	NP_690043.1:p.Val199Met
NM_001382700.1:c.1750G>A	NP_001369629.1:p.Val584Met
NM_001382701.1:c.1465G>A	NP_001369630.1:p.Val489Met
NM_001382702.1:c.247G>A	NP_001369631.1:p.Val83Met
NR_168483.1:n.695G>A