Canonical Allele Identifier: CA400557862

Gene: ACE

Linked Data

• gnomAD v4: 17-63488685-A-C
• MyVariant Identifiers: chr17:g.61566046A>C (hg19) ; chr17:g.63488685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488685A>C , CM000679.2:g.63488685A>C	GRCh38
NC_000017.10:g.61566046A>C , CM000679.1:g.61566046A>C	GRCh37
NC_000017.9:g.58919778A>C	NCBI36
NG_011648.1:g.16613A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2343A>C MANE Select	ENSP00000290866.4:p.Glu781Asp
ENST00000290863.10:c.621A>C	ENSP00000290863.6:p.Glu207Asp
ENST00000290866.9:c.2343A>C	ENSP00000290866.4:p.Glu781Asp
ENST00000413513.7:c.621A>C	ENSP00000392247.3:p.Glu207Asp
ENST00000428043.5:c.2343A>C	ENSP00000397593.2:p.Glu781Asp
ENST00000577647.2:c.621A>C	ENSP00000464149.1:p.Glu207Asp
ENST00000578839.5:c.*413A>C	ENSP00000462110.2:n.*413A>C
ENST00000579204.1:c.602A>C	ENSP00000464629.1:n.602A>C
ENST00000579314.5:c.*72A>C	ENSP00000462599.1:n.*72A>C
ENST00000582005.5:c.*263A>C	ENSP00000462002.1:n.*263A>C
ENST00000582761.1:c.111A>C	ENSP00000462909.1:p.Glu37Asp
ENST00000584865.5:n.289A>C
NM_000789.3:c.2343A>C	NP_000780.1:p.Glu781Asp
NM_001178057.1:c.621A>C	NP_001171528.1:p.Glu207Asp
NM_152830.2:c.621A>C	NP_690043.1:p.Glu207Asp
XM_005257110.1:c.1794A>C	XP_005257167.1:p.Glu598Asp
XM_006721737.2:c.681A>C	XP_006721800.2:p.Glu227Asp
XM_006721737.3:c.681A>C	XP_006721800.2:p.Glu227Asp
NM_000789.4:c.2343A>C MANE Select	NP_000780.1:p.Glu781Asp
NM_001178057.2:c.621A>C	NP_001171528.1:p.Glu207Asp
NM_152830.3:c.621A>C	NP_690043.1:p.Glu207Asp
NM_001382700.1:c.1776A>C	NP_001369629.1:p.Glu592Asp
NM_001382701.1:c.1491A>C	NP_001369630.1:p.Glu497Asp
NM_001382702.1:c.273A>C	NP_001369631.1:p.Glu91Asp
NR_168483.1:n.721A>C