Canonical Allele Identifier: CA400556399

Gene: ACE

Linked Data

• dbSNP Id: rs1334538300
• gnomAD v2: 17-61564072-A-T
• gnomAD v3: 17-63486711-A-T
• gnomAD v4: 17-63486711-A-T
• MyVariant Identifiers: chr17:g.61564072A>T (hg19) ; chr17:g.63486711A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486711A>T , CM000679.2:g.63486711A>T	GRCh38
NC_000017.10:g.61564072A>T , CM000679.1:g.61564072A>T	GRCh37
NC_000017.9:g.58917804A>T	NCBI36
NG_011648.1:g.14639A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2213A>T MANE Select	ENSP00000290866.4:p.Glu738Val
ENST00000290863.10:c.491A>T	ENSP00000290863.6:p.Glu164Val
ENST00000290866.9:c.2213A>T	ENSP00000290866.4:p.Glu738Val
ENST00000413513.7:c.491A>T	ENSP00000392247.3:p.Glu164Val
ENST00000428043.5:c.2213A>T	ENSP00000397593.2:p.Glu738Val
ENST00000577647.2:c.491A>T	ENSP00000464149.1:p.Glu164Val
ENST00000578839.5:c.*283A>T	ENSP00000462110.2:n.*283A>T
ENST00000579204.1:c.394A>T	ENSP00000464629.1:n.394A>T
ENST00000579314.5:c.491A>T	ENSP00000462599.1:p.Glu164Val
ENST00000579726.5:c.775A>T
ENST00000582005.5:c.*133A>T	ENSP00000462002.1:n.*133A>T
NM_000789.3:c.2213A>T	NP_000780.1:p.Glu738Val
NM_001178057.1:c.491A>T	NP_001171528.1:p.Glu164Val
NM_152830.2:c.491A>T	NP_690043.1:p.Glu164Val
XM_005257110.1:c.1664A>T	XP_005257167.1:p.Glu555Val
XM_006721737.2:c.551A>T	XP_006721800.2:p.Glu184Val
XM_006721737.3:c.551A>T	XP_006721800.2:p.Glu184Val
NM_000789.4:c.2213A>T MANE Select	NP_000780.1:p.Glu738Val
NM_001178057.2:c.491A>T	NP_001171528.1:p.Glu164Val
NM_152830.3:c.491A>T	NP_690043.1:p.Glu164Val
NM_001382700.1:c.1646A>T	NP_001369629.1:p.Glu549Val
NM_001382701.1:c.1361A>T	NP_001369630.1:p.Glu454Val
NM_001382702.1:c.143A>T	NP_001369631.1:p.Glu48Val
NR_168483.1:n.513A>T