Canonical Allele Identifier: CA400557945

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566084C>A (hg19) ; chr17:g.63488723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488723C>A , CM000679.2:g.63488723C>A	GRCh38
NC_000017.10:g.61566084C>A , CM000679.1:g.61566084C>A	GRCh37
NC_000017.9:g.58919816C>A	NCBI36
NG_011648.1:g.16651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2381C>A MANE Select	ENSP00000290866.4:p.Ala794Glu
ENST00000290863.10:c.659C>A	ENSP00000290863.6:p.Ala220Glu
ENST00000290866.9:c.2381C>A	ENSP00000290866.4:p.Ala794Glu
ENST00000413513.7:c.659C>A	ENSP00000392247.3:p.Ala220Glu
ENST00000428043.5:c.2381C>A	ENSP00000397593.2:p.Ala794Glu
ENST00000577647.2:c.659C>A	ENSP00000464149.1:p.Ala220Glu
ENST00000578839.5:c.*451C>A	ENSP00000462110.2:n.*451C>A
ENST00000579204.1:c.640C>A	ENSP00000464629.1:n.640C>A
ENST00000579314.5:c.*110C>A	ENSP00000462599.1:n.*110C>A
ENST00000582005.5:c.*301C>A	ENSP00000462002.1:n.*301C>A
ENST00000582761.1:c.149C>A	ENSP00000462909.1:p.Ala50Glu
ENST00000584865.5:n.327C>A
NM_000789.3:c.2381C>A	NP_000780.1:p.Ala794Glu
NM_001178057.1:c.659C>A	NP_001171528.1:p.Ala220Glu
NM_152830.2:c.659C>A	NP_690043.1:p.Ala220Glu
XM_005257110.1:c.1832C>A	XP_005257167.1:p.Ala611Glu
XM_006721737.2:c.719C>A	XP_006721800.2:p.Ala240Glu
XM_006721737.3:c.719C>A	XP_006721800.2:p.Ala240Glu
NM_000789.4:c.2381C>A MANE Select	NP_000780.1:p.Ala794Glu
NM_001178057.2:c.659C>A	NP_001171528.1:p.Ala220Glu
NM_152830.3:c.659C>A	NP_690043.1:p.Ala220Glu
NM_001382700.1:c.1814C>A	NP_001369629.1:p.Ala605Glu
NM_001382701.1:c.1529C>A	NP_001369630.1:p.Ala510Glu
NM_001382702.1:c.311C>A	NP_001369631.1:p.Ala104Glu
NR_168483.1:n.759C>A