Canonical Allele Identifier: CA400567552

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574293A>T (hg19) ; chr17:g.63496932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496932A>T , CM000679.2:g.63496932A>T	GRCh38
NC_000017.10:g.61574293A>T , CM000679.1:g.61574293A>T	GRCh37
NC_000017.9:g.58928025A>T	NCBI36
NG_011648.1:g.24860A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3638A>T MANE Select	ENSP00000290866.4:p.Glu1213Val
ENST00000290863.10:c.1916A>T	ENSP00000290863.6:p.Glu639Val
ENST00000290866.9:c.3638A>T	ENSP00000290866.4:p.Glu1213Val
ENST00000413513.7:c.1793A>T	ENSP00000392247.3:p.Glu598Val
ENST00000428043.5:c.3638A>T	ENSP00000397593.2:p.Glu1213Val
ENST00000577418.5:n.648A>T
ENST00000577647.2:c.1916A>T	ENSP00000464149.1:p.Glu639Val
ENST00000578839.5:c.*1393A>T	ENSP00000462110.2:n.*1393A>T
ENST00000579314.5:c.*1367A>T	ENSP00000462599.1:n.*1367A>T
ENST00000579409.1:c.325A>T
ENST00000582244.1:n.512A>T
NM_000789.3:c.3638A>T	NP_000780.1:p.Glu1213Val
NM_001178057.1:c.1793A>T	NP_001171528.1:p.Glu598Val
NM_152830.2:c.1916A>T	NP_690043.1:p.Glu639Val
XM_005257110.1:c.3089A>T	XP_005257167.1:p.Glu1030Val
XM_006721737.2:c.1976A>T	XP_006721800.2:p.Glu659Val
XM_006721737.3:c.1976A>T	XP_006721800.2:p.Glu659Val
NM_000789.4:c.3638A>T MANE Select	NP_000780.1:p.Glu1213Val
NM_001178057.2:c.1793A>T	NP_001171528.1:p.Glu598Val
NM_152830.3:c.1916A>T	NP_690043.1:p.Glu639Val
NM_001382700.1:c.3071A>T	NP_001369629.1:p.Glu1024Val
NM_001382701.1:c.2786A>T	NP_001369630.1:p.Glu929Val
NM_001382702.1:c.1253A>T	NP_001369631.1:p.Glu418Val
NR_168483.1:n.2016A>T