Canonical Allele Identifier: CA501185442

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564400C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487039C>T , CM000679.2:g.63487039C>T	GRCh38
NC_000017.10:g.61564400C>T , CM000679.1:g.61564400C>T	GRCh37
NC_000017.9:g.58918132C>T	NCBI36
NG_011648.1:g.14967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2271C>T MANE Select	ENSP00000290866.4:p.Cys757=
ENST00000290863.10:c.549C>T	ENSP00000290863.6:p.Cys183=
ENST00000290866.9:c.2271C>T	ENSP00000290866.4:p.Cys757=
ENST00000413513.7:c.549C>T	ENSP00000392247.3:p.Cys183=
ENST00000428043.5:c.2271C>T	ENSP00000397593.2:p.Cys757=
ENST00000577647.2:c.549C>T	ENSP00000464149.1:p.Cys183=
ENST00000578839.5:c.*341C>T	ENSP00000462110.2:n.*341C>T
ENST00000579204.1:c.452C>T	ENSP00000464629.1:n.452C>T
ENST00000579314.5:c.549C>T	ENSP00000462599.1:p.Cys183=
ENST00000579726.5:c.833C>T
ENST00000582005.5:c.*191C>T	ENSP00000462002.1:n.*191C>T
ENST00000582761.1:c.39C>T	ENSP00000462909.1:p.Cys13=
ENST00000584865.5:n.217C>T
NM_000789.3:c.2271C>T	NP_000780.1:p.Cys757=
NM_001178057.1:c.549C>T	NP_001171528.1:p.Cys183=
NM_152830.2:c.549C>T	NP_690043.1:p.Cys183=
XM_005257110.1:c.1722C>T	XP_005257167.1:p.Cys574=
XM_006721737.2:c.609C>T	XP_006721800.2:p.Cys203=
XM_006721737.3:c.609C>T	XP_006721800.2:p.Cys203=
NM_000789.4:c.2271C>T MANE Select	NP_000780.1:p.Cys757=
NM_001178057.2:c.549C>T	NP_001171528.1:p.Cys183=
NM_152830.3:c.549C>T	NP_690043.1:p.Cys183=
NM_001382700.1:c.1704C>T	NP_001369629.1:p.Cys568=
NM_001382701.1:c.1419C>T	NP_001369630.1:p.Cys473=
NM_001382702.1:c.201C>T	NP_001369631.1:p.Cys67=
NR_168483.1:n.571C>T