Canonical Allele Identifier: CA400557913

Gene: ACE

Linked Data

• gnomAD v3: 17-63488707-G-T
• gnomAD v4: 17-63488707-G-T
• MyVariant Identifiers: chr17:g.61566068G>T (hg19) ; chr17:g.63488707G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488707G>T , CM000679.2:g.63488707G>T	GRCh38
NC_000017.10:g.61566068G>T , CM000679.1:g.61566068G>T	GRCh37
NC_000017.9:g.58919800G>T	NCBI36
NG_011648.1:g.16635G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2365G>T MANE Select	ENSP00000290866.4:p.Gly789Cys
ENST00000290863.10:c.643G>T	ENSP00000290863.6:p.Gly215Cys
ENST00000290866.9:c.2365G>T	ENSP00000290866.4:p.Gly789Cys
ENST00000413513.7:c.643G>T	ENSP00000392247.3:p.Gly215Cys
ENST00000428043.5:c.2365G>T	ENSP00000397593.2:p.Gly789Cys
ENST00000577647.2:c.643G>T	ENSP00000464149.1:p.Gly215Cys
ENST00000578839.5:c.*435G>T	ENSP00000462110.2:n.*435G>T
ENST00000579204.1:c.624G>T	ENSP00000464629.1:n.624G>T
ENST00000579314.5:c.*94G>T	ENSP00000462599.1:n.*94G>T
ENST00000582005.5:c.*285G>T	ENSP00000462002.1:n.*285G>T
ENST00000582761.1:c.133G>T	ENSP00000462909.1:p.Gly45Cys
ENST00000584865.5:n.311G>T
NM_000789.3:c.2365G>T	NP_000780.1:p.Gly789Cys
NM_001178057.1:c.643G>T	NP_001171528.1:p.Gly215Cys
NM_152830.2:c.643G>T	NP_690043.1:p.Gly215Cys
XM_005257110.1:c.1816G>T	XP_005257167.1:p.Gly606Cys
XM_006721737.2:c.703G>T	XP_006721800.2:p.Gly235Cys
XM_006721737.3:c.703G>T	XP_006721800.2:p.Gly235Cys
NM_000789.4:c.2365G>T MANE Select	NP_000780.1:p.Gly789Cys
NM_001178057.2:c.643G>T	NP_001171528.1:p.Gly215Cys
NM_152830.3:c.643G>T	NP_690043.1:p.Gly215Cys
NM_001382700.1:c.1798G>T	NP_001369629.1:p.Gly600Cys
NM_001382701.1:c.1513G>T	NP_001369630.1:p.Gly505Cys
NM_001382702.1:c.295G>T	NP_001369631.1:p.Gly99Cys
NR_168483.1:n.743G>T