Canonical Allele Identifier: CA400557799

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566015C>G (hg19) ; chr17:g.63488654C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488654C>G , CM000679.2:g.63488654C>G	GRCh38
NC_000017.10:g.61566015C>G , CM000679.1:g.61566015C>G	GRCh37
NC_000017.9:g.58919747C>G	NCBI36
NG_011648.1:g.16582C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2312C>G MANE Select	ENSP00000290866.4:p.Thr771Arg
ENST00000290863.10:c.590C>G	ENSP00000290863.6:p.Thr197Arg
ENST00000290866.9:c.2312C>G	ENSP00000290866.4:p.Thr771Arg
ENST00000413513.7:c.590C>G	ENSP00000392247.3:p.Thr197Arg
ENST00000428043.5:c.2312C>G	ENSP00000397593.2:p.Thr771Arg
ENST00000577647.2:c.590C>G	ENSP00000464149.1:p.Thr197Arg
ENST00000578839.5:c.*382C>G	ENSP00000462110.2:n.*382C>G
ENST00000579204.1:c.571C>G	ENSP00000464629.1:n.571C>G
ENST00000579314.5:c.*41C>G	ENSP00000462599.1:n.*41C>G
ENST00000582005.5:c.*232C>G	ENSP00000462002.1:n.*232C>G
ENST00000582761.1:c.80C>G	ENSP00000462909.1:p.Thr27Arg
ENST00000584865.5:n.258C>G
NM_000789.3:c.2312C>G	NP_000780.1:p.Thr771Arg
NM_001178057.1:c.590C>G	NP_001171528.1:p.Thr197Arg
NM_152830.2:c.590C>G	NP_690043.1:p.Thr197Arg
XM_005257110.1:c.1763C>G	XP_005257167.1:p.Thr588Arg
XM_006721737.2:c.650C>G	XP_006721800.2:p.Thr217Arg
XM_006721737.3:c.650C>G	XP_006721800.2:p.Thr217Arg
NM_000789.4:c.2312C>G MANE Select	NP_000780.1:p.Thr771Arg
NM_001178057.2:c.590C>G	NP_001171528.1:p.Thr197Arg
NM_152830.3:c.590C>G	NP_690043.1:p.Thr197Arg
NM_001382700.1:c.1745C>G	NP_001369629.1:p.Thr582Arg
NM_001382701.1:c.1460C>G	NP_001369630.1:p.Thr487Arg
NM_001382702.1:c.242C>G	NP_001369631.1:p.Thr81Arg
NR_168483.1:n.690C>G