Canonical Allele Identifier: CA400556153

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564021T>G (hg19) ; chr17:g.63486660T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486660T>G , CM000679.2:g.63486660T>G	GRCh38
NC_000017.10:g.61564021T>G , CM000679.1:g.61564021T>G	GRCh37
NC_000017.9:g.58917753T>G	NCBI36
NG_011648.1:g.14588T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2162T>G MANE Select	ENSP00000290866.4:p.Ile721Arg
ENST00000290863.10:c.440T>G	ENSP00000290863.6:p.Ile147Arg
ENST00000290866.9:c.2162T>G	ENSP00000290866.4:p.Ile721Arg
ENST00000413513.7:c.440T>G	ENSP00000392247.3:p.Ile147Arg
ENST00000428043.5:c.2162T>G	ENSP00000397593.2:p.Ile721Arg
ENST00000577647.2:c.440T>G	ENSP00000464149.1:p.Ile147Arg
ENST00000578839.5:c.*232T>G	ENSP00000462110.2:n.*232T>G
ENST00000579204.1:c.343T>G	ENSP00000464629.1:n.343T>G
ENST00000579314.5:c.440T>G	ENSP00000462599.1:p.Ile147Arg
ENST00000579726.5:c.724T>G
ENST00000582005.5:c.*82T>G	ENSP00000462002.1:n.*82T>G
NM_000789.3:c.2162T>G	NP_000780.1:p.Ile721Arg
NM_001178057.1:c.440T>G	NP_001171528.1:p.Ile147Arg
NM_152830.2:c.440T>G	NP_690043.1:p.Ile147Arg
XM_005257110.1:c.1613T>G	XP_005257167.1:p.Ile538Arg
XM_006721737.2:c.500T>G	XP_006721800.2:p.Ile167Arg
XM_006721737.3:c.500T>G	XP_006721800.2:p.Ile167Arg
NM_000789.4:c.2162T>G MANE Select	NP_000780.1:p.Ile721Arg
NM_001178057.2:c.440T>G	NP_001171528.1:p.Ile147Arg
NM_152830.3:c.440T>G	NP_690043.1:p.Ile147Arg
NM_001382700.1:c.1595T>G	NP_001369629.1:p.Ile532Arg
NM_001382701.1:c.1310T>G	NP_001369630.1:p.Ile437Arg
NM_001382702.1:c.92T>G	NP_001369631.1:p.Ile31Arg
NR_168483.1:n.462T>G