Canonical Allele Identifier: CA400556298

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564047G>A (hg19) ; chr17:g.63486686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486686G>A , CM000679.2:g.63486686G>A	GRCh38
NC_000017.10:g.61564047G>A , CM000679.1:g.61564047G>A	GRCh37
NC_000017.9:g.58917779G>A	NCBI36
NG_011648.1:g.14614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2188G>A MANE Select	ENSP00000290866.4:p.Ala730Thr
ENST00000290863.10:c.466G>A	ENSP00000290863.6:p.Ala156Thr
ENST00000290866.9:c.2188G>A	ENSP00000290866.4:p.Ala730Thr
ENST00000413513.7:c.466G>A	ENSP00000392247.3:p.Ala156Thr
ENST00000428043.5:c.2188G>A	ENSP00000397593.2:p.Ala730Thr
ENST00000577647.2:c.466G>A	ENSP00000464149.1:p.Ala156Thr
ENST00000578839.5:c.*258G>A	ENSP00000462110.2:n.*258G>A
ENST00000579204.1:c.369G>A	ENSP00000464629.1:n.369G>A
ENST00000579314.5:c.466G>A	ENSP00000462599.1:p.Ala156Thr
ENST00000579726.5:c.750G>A
ENST00000582005.5:c.*108G>A	ENSP00000462002.1:n.*108G>A
NM_000789.3:c.2188G>A	NP_000780.1:p.Ala730Thr
NM_001178057.1:c.466G>A	NP_001171528.1:p.Ala156Thr
NM_152830.2:c.466G>A	NP_690043.1:p.Ala156Thr
XM_005257110.1:c.1639G>A	XP_005257167.1:p.Ala547Thr
XM_006721737.2:c.526G>A	XP_006721800.2:p.Ala176Thr
XM_006721737.3:c.526G>A	XP_006721800.2:p.Ala176Thr
NM_000789.4:c.2188G>A MANE Select	NP_000780.1:p.Ala730Thr
NM_001178057.2:c.466G>A	NP_001171528.1:p.Ala156Thr
NM_152830.3:c.466G>A	NP_690043.1:p.Ala156Thr
NM_001382700.1:c.1621G>A	NP_001369629.1:p.Ala541Thr
NM_001382701.1:c.1336G>A	NP_001369630.1:p.Ala446Thr
NM_001382702.1:c.118G>A	NP_001369631.1:p.Ala40Thr
NR_168483.1:n.488G>A