Canonical Allele Identifier: CA400556843

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564403C>G (hg19) ; chr17:g.63487042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487042C>G , CM000679.2:g.63487042C>G	GRCh38
NC_000017.10:g.61564403C>G , CM000679.1:g.61564403C>G	GRCh37
NC_000017.9:g.58918135C>G	NCBI36
NG_011648.1:g.14970C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2274C>G MANE Select	ENSP00000290866.4:p.His758Gln
ENST00000290863.10:c.552C>G	ENSP00000290863.6:p.His184Gln
ENST00000290866.9:c.2274C>G	ENSP00000290866.4:p.His758Gln
ENST00000413513.7:c.552C>G	ENSP00000392247.3:p.His184Gln
ENST00000428043.5:c.2274C>G	ENSP00000397593.2:p.His758Gln
ENST00000577647.2:c.552C>G	ENSP00000464149.1:p.His184Gln
ENST00000578839.5:c.*344C>G	ENSP00000462110.2:n.*344C>G
ENST00000579204.1:c.455C>G	ENSP00000464629.1:n.455C>G
ENST00000579314.5:c.552C>G	ENSP00000462599.1:p.His184Gln
ENST00000579726.5:c.836C>G
ENST00000582005.5:c.*194C>G	ENSP00000462002.1:n.*194C>G
ENST00000582761.1:c.42C>G	ENSP00000462909.1:p.His14Gln
ENST00000584865.5:n.220C>G
NM_000789.3:c.2274C>G	NP_000780.1:p.His758Gln
NM_001178057.1:c.552C>G	NP_001171528.1:p.His184Gln
NM_152830.2:c.552C>G	NP_690043.1:p.His184Gln
XM_005257110.1:c.1725C>G	XP_005257167.1:p.His575Gln
XM_006721737.2:c.612C>G	XP_006721800.2:p.His204Gln
XM_006721737.3:c.612C>G	XP_006721800.2:p.His204Gln
NM_000789.4:c.2274C>G MANE Select	NP_000780.1:p.His758Gln
NM_001178057.2:c.552C>G	NP_001171528.1:p.His184Gln
NM_152830.3:c.552C>G	NP_690043.1:p.His184Gln
NM_001382700.1:c.1707C>G	NP_001369629.1:p.His569Gln
NM_001382701.1:c.1422C>G	NP_001369630.1:p.His474Gln
NM_001382702.1:c.204C>G	NP_001369631.1:p.His68Gln
NR_168483.1:n.574C>G