Canonical Allele Identifier: CA400557906

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566065G>T (hg19) ; chr17:g.63488704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488704G>T , CM000679.2:g.63488704G>T	GRCh38
NC_000017.10:g.61566065G>T , CM000679.1:g.61566065G>T	GRCh37
NC_000017.9:g.58919797G>T	NCBI36
NG_011648.1:g.16632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2362G>T MANE Select	ENSP00000290866.4:p.Glu788Ter
ENST00000290863.10:c.640G>T	ENSP00000290863.6:p.Glu214Ter
ENST00000290866.9:c.2362G>T	ENSP00000290866.4:p.Glu788Ter
ENST00000413513.7:c.640G>T	ENSP00000392247.3:p.Glu214Ter
ENST00000428043.5:c.2362G>T	ENSP00000397593.2:p.Glu788Ter
ENST00000577647.2:c.640G>T	ENSP00000464149.1:p.Glu214Ter
ENST00000578839.5:c.*432G>T	ENSP00000462110.2:n.*432G>T
ENST00000579204.1:c.621G>T	ENSP00000464629.1:n.621G>T
ENST00000579314.5:c.*91G>T	ENSP00000462599.1:n.*91G>T
ENST00000582005.5:c.*282G>T	ENSP00000462002.1:n.*282G>T
ENST00000582761.1:c.130G>T	ENSP00000462909.1:p.Glu44Ter
ENST00000584865.5:n.308G>T
NM_000789.3:c.2362G>T	NP_000780.1:p.Glu788Ter
NM_001178057.1:c.640G>T	NP_001171528.1:p.Glu214Ter
NM_152830.2:c.640G>T	NP_690043.1:p.Glu214Ter
XM_005257110.1:c.1813G>T	XP_005257167.1:p.Glu605Ter
XM_006721737.2:c.700G>T	XP_006721800.2:p.Glu234Ter
XM_006721737.3:c.700G>T	XP_006721800.2:p.Glu234Ter
NM_000789.4:c.2362G>T MANE Select	NP_000780.1:p.Glu788Ter
NM_001178057.2:c.640G>T	NP_001171528.1:p.Glu214Ter
NM_152830.3:c.640G>T	NP_690043.1:p.Glu214Ter
NM_001382700.1:c.1795G>T	NP_001369629.1:p.Glu599Ter
NM_001382701.1:c.1510G>T	NP_001369630.1:p.Glu504Ter
NM_001382702.1:c.292G>T	NP_001369631.1:p.Glu98Ter
NR_168483.1:n.740G>T