Canonical Allele Identifier: CA400557988

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566105T>A (hg19) ; chr17:g.63488744T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488744T>A , CM000679.2:g.63488744T>A	GRCh38
NC_000017.10:g.61566105T>A , CM000679.1:g.61566105T>A	GRCh37
NC_000017.9:g.58919837T>A	NCBI36
NG_011648.1:g.16672T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2402T>A MANE Select	ENSP00000290866.4:p.Phe801Tyr
ENST00000290863.10:c.680T>A	ENSP00000290863.6:p.Phe227Tyr
ENST00000290866.9:c.2402T>A	ENSP00000290866.4:p.Phe801Tyr
ENST00000413513.7:c.680T>A	ENSP00000392247.3:p.Phe227Tyr
ENST00000428043.5:c.2402T>A	ENSP00000397593.2:p.Phe801Tyr
ENST00000577647.2:c.680T>A	ENSP00000464149.1:p.Phe227Tyr
ENST00000578839.5:c.*472T>A	ENSP00000462110.2:n.*472T>A
ENST00000579204.1:c.661T>A	ENSP00000464629.1:n.661T>A
ENST00000579314.5:c.*131T>A	ENSP00000462599.1:n.*131T>A
ENST00000582005.5:c.*322T>A	ENSP00000462002.1:n.*322T>A
ENST00000582761.1:c.170T>A	ENSP00000462909.1:p.Phe57Tyr
ENST00000584865.5:n.348T>A
NM_000789.3:c.2402T>A	NP_000780.1:p.Phe801Tyr
NM_001178057.1:c.680T>A	NP_001171528.1:p.Phe227Tyr
NM_152830.2:c.680T>A	NP_690043.1:p.Phe227Tyr
XM_005257110.1:c.1853T>A	XP_005257167.1:p.Phe618Tyr
XM_006721737.2:c.740T>A	XP_006721800.2:p.Phe247Tyr
XM_006721737.3:c.740T>A	XP_006721800.2:p.Phe247Tyr
NM_000789.4:c.2402T>A MANE Select	NP_000780.1:p.Phe801Tyr
NM_001178057.2:c.680T>A	NP_001171528.1:p.Phe227Tyr
NM_152830.3:c.680T>A	NP_690043.1:p.Phe227Tyr
NM_001382700.1:c.1835T>A	NP_001369629.1:p.Phe612Tyr
NM_001382701.1:c.1550T>A	NP_001369630.1:p.Phe517Tyr
NM_001382702.1:c.332T>A	NP_001369631.1:p.Phe111Tyr
NR_168483.1:n.780T>A