Canonical Allele Identifier: CA400568727

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574572C>G (hg19) ; chr17:g.63497211C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497211C>G , CM000679.2:g.63497211C>G	GRCh38
NC_000017.10:g.61574572C>G , CM000679.1:g.61574572C>G	GRCh37
NC_000017.9:g.58928304C>G	NCBI36
NG_011648.1:g.25139C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3766C>G MANE Select	ENSP00000290866.4:p.Arg1256Gly
ENST00000290863.10:c.2044C>G	ENSP00000290863.6:p.Arg682Gly
ENST00000290866.9:c.3766C>G	ENSP00000290866.4:p.Arg1256Gly
ENST00000413513.7:c.1921C>G	ENSP00000392247.3:p.Arg641Gly
ENST00000428043.5:c.*188C>G	ENSP00000397593.2:n.*188C>G
ENST00000577647.2:c.1969+226C>G	ENSP00000464149.1:n.1969+226C>G
ENST00000578839.5:c.*1521C>G	ENSP00000462110.2:n.*1521C>G
ENST00000579314.5:c.*1495C>G	ENSP00000462599.1:n.*1495C>G
NM_000789.3:c.3766C>G	NP_000780.1:p.Arg1256Gly
NM_001178057.1:c.1921C>G	NP_001171528.1:p.Arg641Gly
NM_152830.2:c.2044C>G	NP_690043.1:p.Arg682Gly
XM_005257110.1:c.3217C>G	XP_005257167.1:p.Arg1073Gly
XM_006721737.2:c.2104C>G	XP_006721800.2:p.Arg702Gly
XM_006721737.3:c.2104C>G	XP_006721800.2:p.Arg702Gly
NM_000789.4:c.3766C>G MANE Select	NP_000780.1:p.Arg1256Gly
NM_001178057.2:c.1921C>G	NP_001171528.1:p.Arg641Gly
NM_152830.3:c.2044C>G	NP_690043.1:p.Arg682Gly
NM_001382700.1:c.3199C>G	NP_001369629.1:p.Arg1067Gly
NM_001382701.1:c.2914C>G	NP_001369630.1:p.Arg972Gly
NM_001382702.1:c.1381C>G	NP_001369631.1:p.Arg461Gly
NR_168483.1:n.2144C>G