Canonical Allele Identifier: CA400556091

Gene: ACE

Linked Data

• dbSNP Id: rs2029960094
• gnomAD v4: 17-63486647-A-G
• MyVariant Identifiers: chr17:g.61564008A>G (hg19) ; chr17:g.63486647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486647A>G , CM000679.2:g.63486647A>G	GRCh38
NC_000017.10:g.61564008A>G , CM000679.1:g.61564008A>G	GRCh37
NC_000017.9:g.58917740A>G	NCBI36
NG_011648.1:g.14575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2149A>G MANE Select	ENSP00000290866.4:p.Ile717Val
ENST00000290863.10:c.427A>G	ENSP00000290863.6:p.Ile143Val
ENST00000290866.9:c.2149A>G	ENSP00000290866.4:p.Ile717Val
ENST00000413513.7:c.427A>G	ENSP00000392247.3:p.Ile143Val
ENST00000428043.5:c.2149A>G	ENSP00000397593.2:p.Ile717Val
ENST00000577647.2:c.427A>G	ENSP00000464149.1:p.Ile143Val
ENST00000578839.5:c.*219A>G	ENSP00000462110.2:n.*219A>G
ENST00000579204.1:c.330A>G	ENSP00000464629.1:n.330A>G
ENST00000579314.5:c.427A>G	ENSP00000462599.1:p.Ile143Val
ENST00000579726.5:c.711A>G
ENST00000582005.5:c.*69A>G	ENSP00000462002.1:n.*69A>G
NM_000789.3:c.2149A>G	NP_000780.1:p.Ile717Val
NM_001178057.1:c.427A>G	NP_001171528.1:p.Ile143Val
NM_152830.2:c.427A>G	NP_690043.1:p.Ile143Val
XM_005257110.1:c.1600A>G	XP_005257167.1:p.Ile534Val
XM_006721737.2:c.487A>G	XP_006721800.2:p.Ile163Val
XM_006721737.3:c.487A>G	XP_006721800.2:p.Ile163Val
NM_000789.4:c.2149A>G MANE Select	NP_000780.1:p.Ile717Val
NM_001178057.2:c.427A>G	NP_001171528.1:p.Ile143Val
NM_152830.3:c.427A>G	NP_690043.1:p.Ile143Val
NM_001382700.1:c.1582A>G	NP_001369629.1:p.Ile528Val
NM_001382701.1:c.1297A>G	NP_001369630.1:p.Ile433Val
NM_001382702.1:c.79A>G	NP_001369631.1:p.Ile27Val
NR_168483.1:n.449A>G