Canonical Allele Identifier: CA400556391

Gene: ACE

Linked Data

• gnomAD v4: 17-63486710-G-T
• MyVariant Identifiers: chr17:g.61564071G>T (hg19) ; chr17:g.63486710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486710G>T , CM000679.2:g.63486710G>T	GRCh38
NC_000017.10:g.61564071G>T , CM000679.1:g.61564071G>T	GRCh37
NC_000017.9:g.58917803G>T	NCBI36
NG_011648.1:g.14638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2212G>T MANE Select	ENSP00000290866.4:p.Glu738Ter
ENST00000290863.10:c.490G>T	ENSP00000290863.6:p.Glu164Ter
ENST00000290866.9:c.2212G>T	ENSP00000290866.4:p.Glu738Ter
ENST00000413513.7:c.490G>T	ENSP00000392247.3:p.Glu164Ter
ENST00000428043.5:c.2212G>T	ENSP00000397593.2:p.Glu738Ter
ENST00000577647.2:c.490G>T	ENSP00000464149.1:p.Glu164Ter
ENST00000578839.5:c.*282G>T	ENSP00000462110.2:n.*282G>T
ENST00000579204.1:c.393G>T	ENSP00000464629.1:n.393G>T
ENST00000579314.5:c.490G>T	ENSP00000462599.1:p.Glu164Ter
ENST00000579726.5:c.774G>T
ENST00000582005.5:c.*132G>T	ENSP00000462002.1:n.*132G>T
NM_000789.3:c.2212G>T	NP_000780.1:p.Glu738Ter
NM_001178057.1:c.490G>T	NP_001171528.1:p.Glu164Ter
NM_152830.2:c.490G>T	NP_690043.1:p.Glu164Ter
XM_005257110.1:c.1663G>T	XP_005257167.1:p.Glu555Ter
XM_006721737.2:c.550G>T	XP_006721800.2:p.Glu184Ter
XM_006721737.3:c.550G>T	XP_006721800.2:p.Glu184Ter
NM_000789.4:c.2212G>T MANE Select	NP_000780.1:p.Glu738Ter
NM_001178057.2:c.490G>T	NP_001171528.1:p.Glu164Ter
NM_152830.3:c.490G>T	NP_690043.1:p.Glu164Ter
NM_001382700.1:c.1645G>T	NP_001369629.1:p.Glu549Ter
NM_001382701.1:c.1360G>T	NP_001369630.1:p.Glu454Ter
NM_001382702.1:c.142G>T	NP_001369631.1:p.Glu48Ter
NR_168483.1:n.512G>T