Canonical Allele Identifier: CA400556321

Gene: ACE

Linked Data

• ClinVar Variation Id: 2471854
• ClinVar RCV Id: RCV003202785
• dbSNP Id: rs1374995262
• gnomAD v2: 17-61564051-C-T
• gnomAD v3: 17-63486690-C-T
• gnomAD v4: 17-63486690-C-T
• MyVariant Identifiers: chr17:g.61564051C>T (hg19) ; chr17:g.63486690C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486690C>T , CM000679.2:g.63486690C>T	GRCh38
NC_000017.10:g.61564051C>T , CM000679.1:g.61564051C>T	GRCh37
NC_000017.9:g.58917783C>T	NCBI36
NG_011648.1:g.14618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2192C>T MANE Select	ENSP00000290866.4:p.Ala731Val
ENST00000290863.10:c.470C>T	ENSP00000290863.6:p.Ala157Val
ENST00000290866.9:c.2192C>T	ENSP00000290866.4:p.Ala731Val
ENST00000413513.7:c.470C>T	ENSP00000392247.3:p.Ala157Val
ENST00000428043.5:c.2192C>T	ENSP00000397593.2:p.Ala731Val
ENST00000577647.2:c.470C>T	ENSP00000464149.1:p.Ala157Val
ENST00000578839.5:c.*262C>T	ENSP00000462110.2:n.*262C>T
ENST00000579204.1:c.373C>T	ENSP00000464629.1:n.373C>T
ENST00000579314.5:c.470C>T	ENSP00000462599.1:p.Ala157Val
ENST00000579726.5:c.754C>T
ENST00000582005.5:c.*112C>T	ENSP00000462002.1:n.*112C>T
NM_000789.3:c.2192C>T	NP_000780.1:p.Ala731Val
NM_001178057.1:c.470C>T	NP_001171528.1:p.Ala157Val
NM_152830.2:c.470C>T	NP_690043.1:p.Ala157Val
XM_005257110.1:c.1643C>T	XP_005257167.1:p.Ala548Val
XM_006721737.2:c.530C>T	XP_006721800.2:p.Ala177Val
XM_006721737.3:c.530C>T	XP_006721800.2:p.Ala177Val
NM_000789.4:c.2192C>T MANE Select	NP_000780.1:p.Ala731Val
NM_001178057.2:c.470C>T	NP_001171528.1:p.Ala157Val
NM_152830.3:c.470C>T	NP_690043.1:p.Ala157Val
NM_001382700.1:c.1625C>T	NP_001369629.1:p.Ala542Val
NM_001382701.1:c.1340C>T	NP_001369630.1:p.Ala447Val
NM_001382702.1:c.122C>T	NP_001369631.1:p.Ala41Val
NR_168483.1:n.492C>T