Canonical Allele Identifier: CA400557925

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566074C>G (hg19) ; chr17:g.63488713C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488713C>G , CM000679.2:g.63488713C>G	GRCh38
NC_000017.10:g.61566074C>G , CM000679.1:g.61566074C>G	GRCh37
NC_000017.9:g.58919806C>G	NCBI36
NG_011648.1:g.16641C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2371C>G MANE Select	ENSP00000290866.4:p.Arg791Gly
ENST00000290863.10:c.649C>G	ENSP00000290863.6:p.Arg217Gly
ENST00000290866.9:c.2371C>G	ENSP00000290866.4:p.Arg791Gly
ENST00000413513.7:c.649C>G	ENSP00000392247.3:p.Arg217Gly
ENST00000428043.5:c.2371C>G	ENSP00000397593.2:p.Arg791Gly
ENST00000577647.2:c.649C>G	ENSP00000464149.1:p.Arg217Gly
ENST00000578839.5:c.*441C>G	ENSP00000462110.2:n.*441C>G
ENST00000579204.1:c.630C>G	ENSP00000464629.1:n.630C>G
ENST00000579314.5:c.*100C>G	ENSP00000462599.1:n.*100C>G
ENST00000582005.5:c.*291C>G	ENSP00000462002.1:n.*291C>G
ENST00000582761.1:c.139C>G	ENSP00000462909.1:p.Arg47Gly
ENST00000584865.5:n.317C>G
NM_000789.3:c.2371C>G	NP_000780.1:p.Arg791Gly
NM_001178057.1:c.649C>G	NP_001171528.1:p.Arg217Gly
NM_152830.2:c.649C>G	NP_690043.1:p.Arg217Gly
XM_005257110.1:c.1822C>G	XP_005257167.1:p.Arg608Gly
XM_006721737.2:c.709C>G	XP_006721800.2:p.Arg237Gly
XM_006721737.3:c.709C>G	XP_006721800.2:p.Arg237Gly
NM_000789.4:c.2371C>G MANE Select	NP_000780.1:p.Arg791Gly
NM_001178057.2:c.649C>G	NP_001171528.1:p.Arg217Gly
NM_152830.3:c.649C>G	NP_690043.1:p.Arg217Gly
NM_001382700.1:c.1804C>G	NP_001369629.1:p.Arg602Gly
NM_001382701.1:c.1519C>G	NP_001369630.1:p.Arg507Gly
NM_001382702.1:c.301C>G	NP_001369631.1:p.Arg101Gly
NR_168483.1:n.749C>G