Canonical Allele Identifier: CA8700073

Gene: ACE

Linked Data

• dbSNP Id: rs758874020
• ExAC: 17:61566070 C / A
• gnomAD v2: 17-61566070-C-A
• MyVariant Identifiers: chr17:g.61566070C>A (hg19) ; chr17:g.63488709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488709C>A , CM000679.2:g.63488709C>A	GRCh38
NC_000017.10:g.61566070C>A , CM000679.1:g.61566070C>A	GRCh37
NC_000017.9:g.58919802C>A	NCBI36
NG_011648.1:g.16637C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2367C>A MANE Select	ENSP00000290866.4:p.Gly789=
ENST00000290863.10:c.645C>A	ENSP00000290863.6:p.Gly215=
ENST00000290866.9:c.2367C>A	ENSP00000290866.4:p.Gly789=
ENST00000413513.7:c.645C>A	ENSP00000392247.3:p.Gly215=
ENST00000428043.5:c.2367C>A	ENSP00000397593.2:p.Gly789=
ENST00000577647.2:c.645C>A	ENSP00000464149.1:p.Gly215=
ENST00000578839.5:c.*437C>A	ENSP00000462110.2:n.*437C>A
ENST00000579204.1:c.626C>A	ENSP00000464629.1:n.626C>A
ENST00000579314.5:c.*96C>A	ENSP00000462599.1:n.*96C>A
ENST00000582005.5:c.*287C>A	ENSP00000462002.1:n.*287C>A
ENST00000582761.1:c.135C>A	ENSP00000462909.1:p.Gly45=
ENST00000584865.5:n.313C>A
NM_000789.3:c.2367C>A	NP_000780.1:p.Gly789=
NM_001178057.1:c.645C>A	NP_001171528.1:p.Gly215=
NM_152830.2:c.645C>A	NP_690043.1:p.Gly215=
XM_005257110.1:c.1818C>A	XP_005257167.1:p.Gly606=
XM_006721737.2:c.705C>A	XP_006721800.2:p.Gly235=
XM_006721737.3:c.705C>A	XP_006721800.2:p.Gly235=
NM_000789.4:c.2367C>A MANE Select	NP_000780.1:p.Gly789=
NM_001178057.2:c.645C>A	NP_001171528.1:p.Gly215=
NM_152830.3:c.645C>A	NP_690043.1:p.Gly215=
NM_001382700.1:c.1800C>A	NP_001369629.1:p.Gly600=
NM_001382701.1:c.1515C>A	NP_001369630.1:p.Gly505=
NM_001382702.1:c.297C>A	NP_001369631.1:p.Gly99=
NR_168483.1:n.745C>A