Canonical Allele Identifier: CA400557907

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566066A>T (hg19) ; chr17:g.63488705A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488705A>T , CM000679.2:g.63488705A>T	GRCh38
NC_000017.10:g.61566066A>T , CM000679.1:g.61566066A>T	GRCh37
NC_000017.9:g.58919798A>T	NCBI36
NG_011648.1:g.16633A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2363A>T MANE Select	ENSP00000290866.4:p.Glu788Val
ENST00000290863.10:c.641A>T	ENSP00000290863.6:p.Glu214Val
ENST00000290866.9:c.2363A>T	ENSP00000290866.4:p.Glu788Val
ENST00000413513.7:c.641A>T	ENSP00000392247.3:p.Glu214Val
ENST00000428043.5:c.2363A>T	ENSP00000397593.2:p.Glu788Val
ENST00000577647.2:c.641A>T	ENSP00000464149.1:p.Glu214Val
ENST00000578839.5:c.*433A>T	ENSP00000462110.2:n.*433A>T
ENST00000579204.1:c.622A>T	ENSP00000464629.1:n.622A>T
ENST00000579314.5:c.*92A>T	ENSP00000462599.1:n.*92A>T
ENST00000582005.5:c.*283A>T	ENSP00000462002.1:n.*283A>T
ENST00000582761.1:c.131A>T	ENSP00000462909.1:p.Glu44Val
ENST00000584865.5:n.309A>T
NM_000789.3:c.2363A>T	NP_000780.1:p.Glu788Val
NM_001178057.1:c.641A>T	NP_001171528.1:p.Glu214Val
NM_152830.2:c.641A>T	NP_690043.1:p.Glu214Val
XM_005257110.1:c.1814A>T	XP_005257167.1:p.Glu605Val
XM_006721737.2:c.701A>T	XP_006721800.2:p.Glu234Val
XM_006721737.3:c.701A>T	XP_006721800.2:p.Glu234Val
NM_000789.4:c.2363A>T MANE Select	NP_000780.1:p.Glu788Val
NM_001178057.2:c.641A>T	NP_001171528.1:p.Glu214Val
NM_152830.3:c.641A>T	NP_690043.1:p.Glu214Val
NM_001382700.1:c.1796A>T	NP_001369629.1:p.Glu599Val
NM_001382701.1:c.1511A>T	NP_001369630.1:p.Glu504Val
NM_001382702.1:c.293A>T	NP_001369631.1:p.Glu98Val
NR_168483.1:n.741A>T