Canonical Allele Identifier: CA8700135

Gene: ACE

Linked Data

• dbSNP Id: rs267604983
• ExAC: 17:61566340 G / A
• gnomAD v2: 17-61566340-G-A
• gnomAD v3: 17-63488979-G-A
• gnomAD v4: 17-63488979-G-A
• MyVariant Identifiers: chr17:g.61566340G>A (hg19) ; chr17:g.63488979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488979G>A , CM000679.2:g.63488979G>A	GRCh38
NC_000017.10:g.61566340G>A , CM000679.1:g.61566340G>A	GRCh37
NC_000017.9:g.58920072G>A	NCBI36
NG_011648.1:g.16907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2488G>A MANE Select	ENSP00000290866.4:p.Glu830Lys
ENST00000290863.10:c.766G>A	ENSP00000290863.6:p.Glu256Lys
ENST00000290866.9:c.2488G>A	ENSP00000290866.4:p.Glu830Lys
ENST00000413513.7:c.766G>A	ENSP00000392247.3:p.Glu256Lys
ENST00000428043.5:c.2488G>A	ENSP00000397593.2:p.Glu830Lys
ENST00000577647.2:c.766G>A	ENSP00000464149.1:p.Glu256Lys
ENST00000578839.5:c.*519+188G>A	ENSP00000462110.2:n.*519+188G>A
ENST00000579204.1:c.747G>A	ENSP00000464629.1:n.747G>A
ENST00000579314.5:c.*217G>A	ENSP00000462599.1:n.*217G>A
ENST00000582005.5:c.*408G>A	ENSP00000462002.1:n.*408G>A
ENST00000582761.1:c.256G>A	ENSP00000462909.1:p.Glu86Lys
ENST00000584865.5:n.434G>A
NM_000789.3:c.2488G>A	NP_000780.1:p.Glu830Lys
NM_001178057.1:c.766G>A	NP_001171528.1:p.Glu256Lys
NM_152830.2:c.766G>A	NP_690043.1:p.Glu256Lys
XM_005257110.1:c.1939G>A	XP_005257167.1:p.Glu647Lys
XM_006721737.2:c.826G>A	XP_006721800.2:p.Glu276Lys
XM_006721737.3:c.826G>A	XP_006721800.2:p.Glu276Lys
NM_000789.4:c.2488G>A MANE Select	NP_000780.1:p.Glu830Lys
NM_001178057.2:c.766G>A	NP_001171528.1:p.Glu256Lys
NM_152830.3:c.766G>A	NP_690043.1:p.Glu256Lys
NM_001382700.1:c.1921G>A	NP_001369629.1:p.Glu641Lys
NM_001382701.1:c.1636G>A	NP_001369630.1:p.Glu546Lys
NM_001382702.1:c.379+188G>A	NP_001369631.1:n.379+188G>A
NR_168483.1:n.866G>A