Canonical Allele Identifier: CA400558054

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566134C>G (hg19) ; chr17:g.63488773C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488773C>G , CM000679.2:g.63488773C>G	GRCh38
NC_000017.10:g.61566134C>G , CM000679.1:g.61566134C>G	GRCh37
NC_000017.9:g.58919866C>G	NCBI36
NG_011648.1:g.16701C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2431C>G MANE Select	ENSP00000290866.4:p.Gln811Glu
ENST00000290863.10:c.709C>G	ENSP00000290863.6:p.Gln237Glu
ENST00000290866.9:c.2431C>G	ENSP00000290866.4:p.Gln811Glu
ENST00000413513.7:c.709C>G	ENSP00000392247.3:p.Gln237Glu
ENST00000428043.5:c.2431C>G	ENSP00000397593.2:p.Gln811Glu
ENST00000577647.2:c.709C>G	ENSP00000464149.1:p.Gln237Glu
ENST00000578839.5:c.*501C>G	ENSP00000462110.2:n.*501C>G
ENST00000579204.1:c.690C>G	ENSP00000464629.1:n.690C>G
ENST00000579314.5:c.*160C>G	ENSP00000462599.1:n.*160C>G
ENST00000582005.5:c.*351C>G	ENSP00000462002.1:n.*351C>G
ENST00000582761.1:c.199C>G	ENSP00000462909.1:p.Gln67Glu
ENST00000584865.5:n.377C>G
NM_000789.3:c.2431C>G	NP_000780.1:p.Gln811Glu
NM_001178057.1:c.709C>G	NP_001171528.1:p.Gln237Glu
NM_152830.2:c.709C>G	NP_690043.1:p.Gln237Glu
XM_005257110.1:c.1882C>G	XP_005257167.1:p.Gln628Glu
XM_006721737.2:c.769C>G	XP_006721800.2:p.Gln257Glu
XM_006721737.3:c.769C>G	XP_006721800.2:p.Gln257Glu
NM_000789.4:c.2431C>G MANE Select	NP_000780.1:p.Gln811Glu
NM_001178057.2:c.709C>G	NP_001171528.1:p.Gln237Glu
NM_152830.3:c.709C>G	NP_690043.1:p.Gln237Glu
NM_001382700.1:c.1864C>G	NP_001369629.1:p.Gln622Glu
NM_001382701.1:c.1579C>G	NP_001369630.1:p.Gln527Glu
NM_001382702.1:c.361C>G	NP_001369631.1:p.Gln121Glu
NR_168483.1:n.809C>G