Canonical Allele Identifier: CA400556354

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564059G>A (hg19) ; chr17:g.63486698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486698G>A , CM000679.2:g.63486698G>A	GRCh38
NC_000017.10:g.61564059G>A , CM000679.1:g.61564059G>A	GRCh37
NC_000017.9:g.58917791G>A	NCBI36
NG_011648.1:g.14626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2200G>A MANE Select	ENSP00000290866.4:p.Ala734Thr
ENST00000290863.10:c.478G>A	ENSP00000290863.6:p.Ala160Thr
ENST00000290866.9:c.2200G>A	ENSP00000290866.4:p.Ala734Thr
ENST00000413513.7:c.478G>A	ENSP00000392247.3:p.Ala160Thr
ENST00000428043.5:c.2200G>A	ENSP00000397593.2:p.Ala734Thr
ENST00000577647.2:c.478G>A	ENSP00000464149.1:p.Ala160Thr
ENST00000578839.5:c.*270G>A	ENSP00000462110.2:n.*270G>A
ENST00000579204.1:c.381G>A	ENSP00000464629.1:n.381G>A
ENST00000579314.5:c.478G>A	ENSP00000462599.1:p.Ala160Thr
ENST00000579726.5:c.762G>A
ENST00000582005.5:c.*120G>A	ENSP00000462002.1:n.*120G>A
NM_000789.3:c.2200G>A	NP_000780.1:p.Ala734Thr
NM_001178057.1:c.478G>A	NP_001171528.1:p.Ala160Thr
NM_152830.2:c.478G>A	NP_690043.1:p.Ala160Thr
XM_005257110.1:c.1651G>A	XP_005257167.1:p.Ala551Thr
XM_006721737.2:c.538G>A	XP_006721800.2:p.Ala180Thr
XM_006721737.3:c.538G>A	XP_006721800.2:p.Ala180Thr
NM_000789.4:c.2200G>A MANE Select	NP_000780.1:p.Ala734Thr
NM_001178057.2:c.478G>A	NP_001171528.1:p.Ala160Thr
NM_152830.3:c.478G>A	NP_690043.1:p.Ala160Thr
NM_001382700.1:c.1633G>A	NP_001369629.1:p.Ala545Thr
NM_001382701.1:c.1348G>A	NP_001369630.1:p.Ala450Thr
NM_001382702.1:c.130G>A	NP_001369631.1:p.Ala44Thr
NR_168483.1:n.500G>A