Canonical Allele Identifier: CA400558073

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566143C>G (hg19) ; chr17:g.63488782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488782C>G , CM000679.2:g.63488782C>G	GRCh38
NC_000017.10:g.61566143C>G , CM000679.1:g.61566143C>G	GRCh37
NC_000017.9:g.58919875C>G	NCBI36
NG_011648.1:g.16710C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2440C>G MANE Select	ENSP00000290866.4:p.Arg814Gly
ENST00000290863.10:c.718C>G	ENSP00000290863.6:p.Arg240Gly
ENST00000290866.9:c.2440C>G	ENSP00000290866.4:p.Arg814Gly
ENST00000413513.7:c.718C>G	ENSP00000392247.3:p.Arg240Gly
ENST00000428043.5:c.2440C>G	ENSP00000397593.2:p.Arg814Gly
ENST00000577647.2:c.718C>G	ENSP00000464149.1:p.Arg240Gly
ENST00000578839.5:c.*510C>G	ENSP00000462110.2:n.*510C>G
ENST00000579204.1:c.699C>G	ENSP00000464629.1:n.699C>G
ENST00000579314.5:c.*169C>G	ENSP00000462599.1:n.*169C>G
ENST00000582005.5:c.*360C>G	ENSP00000462002.1:n.*360C>G
ENST00000582761.1:c.208C>G	ENSP00000462909.1:p.Arg70Gly
ENST00000584865.5:n.386C>G
NM_000789.3:c.2440C>G	NP_000780.1:p.Arg814Gly
NM_001178057.1:c.718C>G	NP_001171528.1:p.Arg240Gly
NM_152830.2:c.718C>G	NP_690043.1:p.Arg240Gly
XM_005257110.1:c.1891C>G	XP_005257167.1:p.Arg631Gly
XM_006721737.2:c.778C>G	XP_006721800.2:p.Arg260Gly
XM_006721737.3:c.778C>G	XP_006721800.2:p.Arg260Gly
NM_000789.4:c.2440C>G MANE Select	NP_000780.1:p.Arg814Gly
NM_001178057.2:c.718C>G	NP_001171528.1:p.Arg240Gly
NM_152830.3:c.718C>G	NP_690043.1:p.Arg240Gly
NM_001382700.1:c.1873C>G	NP_001369629.1:p.Arg625Gly
NM_001382701.1:c.1588C>G	NP_001369630.1:p.Arg530Gly
NM_001382702.1:c.370C>G	NP_001369631.1:p.Arg124Gly
NR_168483.1:n.818C>G