Canonical Allele Identifier: CA400558578

Gene: ACE

Linked Data

• dbSNP Id: rs1258657289
• gnomAD v2: 17-61566413-C-A
• gnomAD v4: 17-63489052-C-A
• MyVariant Identifiers: chr17:g.61566413C>A (hg19) ; chr17:g.63489052C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489052C>A , CM000679.2:g.63489052C>A	GRCh38
NC_000017.10:g.61566413C>A , CM000679.1:g.61566413C>A	GRCh37
NC_000017.9:g.58920145C>A	NCBI36
NG_011648.1:g.16980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2561C>A MANE Select	ENSP00000290866.4:p.Ala854Asp
ENST00000290863.10:c.839C>A	ENSP00000290863.6:p.Ala280Asp
ENST00000290866.9:c.2561C>A	ENSP00000290866.4:p.Ala854Asp
ENST00000413513.7:c.839C>A	ENSP00000392247.3:p.Ala280Asp
ENST00000428043.5:c.2561C>A	ENSP00000397593.2:p.Ala854Asp
ENST00000577647.2:c.839C>A	ENSP00000464149.1:p.Ala280Asp
ENST00000578839.5:c.*519+261C>A	ENSP00000462110.2:n.*519+261C>A
ENST00000579314.5:c.*290C>A	ENSP00000462599.1:n.*290C>A
ENST00000582005.5:c.*481C>A	ENSP00000462002.1:n.*481C>A
ENST00000582761.1:c.329C>A	ENSP00000462909.1:p.Ala110Asp
ENST00000584865.5:n.507C>A
NM_000789.3:c.2561C>A	NP_000780.1:p.Ala854Asp
NM_001178057.1:c.839C>A	NP_001171528.1:p.Ala280Asp
NM_152830.2:c.839C>A	NP_690043.1:p.Ala280Asp
XM_005257110.1:c.2012C>A	XP_005257167.1:p.Ala671Asp
XM_006721737.2:c.899C>A	XP_006721800.2:p.Ala300Asp
XM_006721737.3:c.899C>A	XP_006721800.2:p.Ala300Asp
NM_000789.4:c.2561C>A MANE Select	NP_000780.1:p.Ala854Asp
NM_001178057.2:c.839C>A	NP_001171528.1:p.Ala280Asp
NM_152830.3:c.839C>A	NP_690043.1:p.Ala280Asp
NM_001382700.1:c.1994C>A	NP_001369629.1:p.Ala665Asp
NM_001382701.1:c.1709C>A	NP_001369630.1:p.Ala570Asp
NM_001382702.1:c.379+261C>A	NP_001369631.1:n.379+261C>A
NR_168483.1:n.939C>A