Canonical Allele Identifier: CA400556275

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564042A>T (hg19) ; chr17:g.63486681A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486681A>T , CM000679.2:g.63486681A>T	GRCh38
NC_000017.10:g.61564042A>T , CM000679.1:g.61564042A>T	GRCh37
NC_000017.9:g.58917774A>T	NCBI36
NG_011648.1:g.14609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2183A>T MANE Select	ENSP00000290866.4:p.Glu728Val
ENST00000290863.10:c.461A>T	ENSP00000290863.6:p.Glu154Val
ENST00000290866.9:c.2183A>T	ENSP00000290866.4:p.Glu728Val
ENST00000413513.7:c.461A>T	ENSP00000392247.3:p.Glu154Val
ENST00000428043.5:c.2183A>T	ENSP00000397593.2:p.Glu728Val
ENST00000577647.2:c.461A>T	ENSP00000464149.1:p.Glu154Val
ENST00000578839.5:c.*253A>T	ENSP00000462110.2:n.*253A>T
ENST00000579204.1:c.364A>T	ENSP00000464629.1:n.364A>T
ENST00000579314.5:c.461A>T	ENSP00000462599.1:p.Glu154Val
ENST00000579726.5:c.745A>T
ENST00000582005.5:c.*103A>T	ENSP00000462002.1:n.*103A>T
NM_000789.3:c.2183A>T	NP_000780.1:p.Glu728Val
NM_001178057.1:c.461A>T	NP_001171528.1:p.Glu154Val
NM_152830.2:c.461A>T	NP_690043.1:p.Glu154Val
XM_005257110.1:c.1634A>T	XP_005257167.1:p.Glu545Val
XM_006721737.2:c.521A>T	XP_006721800.2:p.Glu174Val
XM_006721737.3:c.521A>T	XP_006721800.2:p.Glu174Val
NM_000789.4:c.2183A>T MANE Select	NP_000780.1:p.Glu728Val
NM_001178057.2:c.461A>T	NP_001171528.1:p.Glu154Val
NM_152830.3:c.461A>T	NP_690043.1:p.Glu154Val
NM_001382700.1:c.1616A>T	NP_001369629.1:p.Glu539Val
NM_001382701.1:c.1331A>T	NP_001369630.1:p.Glu444Val
NM_001382702.1:c.113A>T	NP_001369631.1:p.Glu38Val
NR_168483.1:n.483A>T