Canonical Allele Identifier: CA400557853

Gene: ACE

Linked Data

• gnomAD v4: 17-63488681-A-G
• MyVariant Identifiers: chr17:g.61566042A>G (hg19) ; chr17:g.63488681A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488681A>G , CM000679.2:g.63488681A>G	GRCh38
NC_000017.10:g.61566042A>G , CM000679.1:g.61566042A>G	GRCh37
NC_000017.9:g.58919774A>G	NCBI36
NG_011648.1:g.16609A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2339A>G MANE Select	ENSP00000290866.4:p.Tyr780Cys
ENST00000290863.10:c.617A>G	ENSP00000290863.6:p.Tyr206Cys
ENST00000290866.9:c.2339A>G	ENSP00000290866.4:p.Tyr780Cys
ENST00000413513.7:c.617A>G	ENSP00000392247.3:p.Tyr206Cys
ENST00000428043.5:c.2339A>G	ENSP00000397593.2:p.Tyr780Cys
ENST00000577647.2:c.617A>G	ENSP00000464149.1:p.Tyr206Cys
ENST00000578839.5:c.*409A>G	ENSP00000462110.2:n.*409A>G
ENST00000579204.1:c.598A>G	ENSP00000464629.1:n.598A>G
ENST00000579314.5:c.*68A>G	ENSP00000462599.1:n.*68A>G
ENST00000582005.5:c.*259A>G	ENSP00000462002.1:n.*259A>G
ENST00000582761.1:c.107A>G	ENSP00000462909.1:p.Tyr36Cys
ENST00000584865.5:n.285A>G
NM_000789.3:c.2339A>G	NP_000780.1:p.Tyr780Cys
NM_001178057.1:c.617A>G	NP_001171528.1:p.Tyr206Cys
NM_152830.2:c.617A>G	NP_690043.1:p.Tyr206Cys
XM_005257110.1:c.1790A>G	XP_005257167.1:p.Tyr597Cys
XM_006721737.2:c.677A>G	XP_006721800.2:p.Tyr226Cys
XM_006721737.3:c.677A>G	XP_006721800.2:p.Tyr226Cys
NM_000789.4:c.2339A>G MANE Select	NP_000780.1:p.Tyr780Cys
NM_001178057.2:c.617A>G	NP_001171528.1:p.Tyr206Cys
NM_152830.3:c.617A>G	NP_690043.1:p.Tyr206Cys
NM_001382700.1:c.1772A>G	NP_001369629.1:p.Tyr591Cys
NM_001382701.1:c.1487A>G	NP_001369630.1:p.Tyr496Cys
NM_001382702.1:c.269A>G	NP_001369631.1:p.Tyr90Cys
NR_168483.1:n.717A>G