Canonical Allele Identifier: CA400558009

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566114A>G (hg19) ; chr17:g.63488753A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488753A>G , CM000679.2:g.63488753A>G	GRCh38
NC_000017.10:g.61566114A>G , CM000679.1:g.61566114A>G	GRCh37
NC_000017.9:g.58919846A>G	NCBI36
NG_011648.1:g.16681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2411A>G MANE Select	ENSP00000290866.4:p.Lys804Arg
ENST00000290863.10:c.689A>G	ENSP00000290863.6:p.Lys230Arg
ENST00000290866.9:c.2411A>G	ENSP00000290866.4:p.Lys804Arg
ENST00000413513.7:c.689A>G	ENSP00000392247.3:p.Lys230Arg
ENST00000428043.5:c.2411A>G	ENSP00000397593.2:p.Lys804Arg
ENST00000577647.2:c.689A>G	ENSP00000464149.1:p.Lys230Arg
ENST00000578839.5:c.*481A>G	ENSP00000462110.2:n.*481A>G
ENST00000579204.1:c.670A>G	ENSP00000464629.1:n.670A>G
ENST00000579314.5:c.*140A>G	ENSP00000462599.1:n.*140A>G
ENST00000582005.5:c.*331A>G	ENSP00000462002.1:n.*331A>G
ENST00000582761.1:c.179A>G	ENSP00000462909.1:p.Lys60Arg
ENST00000584865.5:n.357A>G
NM_000789.3:c.2411A>G	NP_000780.1:p.Lys804Arg
NM_001178057.1:c.689A>G	NP_001171528.1:p.Lys230Arg
NM_152830.2:c.689A>G	NP_690043.1:p.Lys230Arg
XM_005257110.1:c.1862A>G	XP_005257167.1:p.Lys621Arg
XM_006721737.2:c.749A>G	XP_006721800.2:p.Lys250Arg
XM_006721737.3:c.749A>G	XP_006721800.2:p.Lys250Arg
NM_000789.4:c.2411A>G MANE Select	NP_000780.1:p.Lys804Arg
NM_001178057.2:c.689A>G	NP_001171528.1:p.Lys230Arg
NM_152830.3:c.689A>G	NP_690043.1:p.Lys230Arg
NM_001382700.1:c.1844A>G	NP_001369629.1:p.Lys615Arg
NM_001382701.1:c.1559A>G	NP_001369630.1:p.Lys520Arg
NM_001382702.1:c.341A>G	NP_001369631.1:p.Lys114Arg
NR_168483.1:n.789A>G