Canonical Allele Identifier: CA400555868

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563970C>G (hg19) ; chr17:g.63486609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486609C>G , CM000679.2:g.63486609C>G	GRCh38
NC_000017.10:g.61563970C>G , CM000679.1:g.61563970C>G	GRCh37
NC_000017.9:g.58917702C>G	NCBI36
NG_011648.1:g.14537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2111C>G MANE Select	ENSP00000290866.4:p.Ala704Gly
ENST00000290863.10:c.389C>G	ENSP00000290863.6:p.Ala130Gly
ENST00000290866.9:c.2111C>G	ENSP00000290866.4:p.Ala704Gly
ENST00000413513.7:c.389C>G	ENSP00000392247.3:p.Ala130Gly
ENST00000428043.5:c.2111C>G	ENSP00000397593.2:p.Ala704Gly
ENST00000577647.2:c.389C>G	ENSP00000464149.1:p.Ala130Gly
ENST00000578839.5:c.*181C>G	ENSP00000462110.2:n.*181C>G
ENST00000579204.1:c.292C>G	ENSP00000464629.1:n.292C>G
ENST00000579314.5:c.389C>G	ENSP00000462599.1:p.Ala130Gly
ENST00000579726.5:c.673C>G
ENST00000582005.5:c.*31C>G	ENSP00000462002.1:n.*31C>G
NM_000789.3:c.2111C>G	NP_000780.1:p.Ala704Gly
NM_001178057.1:c.389C>G	NP_001171528.1:p.Ala130Gly
NM_152830.2:c.389C>G	NP_690043.1:p.Ala130Gly
XM_005257110.1:c.1562C>G	XP_005257167.1:p.Ala521Gly
XM_006721737.2:c.449C>G	XP_006721800.2:p.Ala150Gly
XM_006721737.3:c.449C>G	XP_006721800.2:p.Ala150Gly
NM_000789.4:c.2111C>G MANE Select	NP_000780.1:p.Ala704Gly
NM_001178057.2:c.389C>G	NP_001171528.1:p.Ala130Gly
NM_152830.3:c.389C>G	NP_690043.1:p.Ala130Gly
NM_001382700.1:c.1544C>G	NP_001369629.1:p.Ala515Gly
NM_001382701.1:c.1259C>G	NP_001369630.1:p.Ala420Gly
NM_001382702.1:c.41C>G	NP_001369631.1:p.Ala14Gly
NR_168483.1:n.411C>G