Canonical Allele Identifier: CA501187963

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566345A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488984A>G , CM000679.2:g.63488984A>G	GRCh38
NC_000017.10:g.61566345A>G , CM000679.1:g.61566345A>G	GRCh37
NC_000017.9:g.58920077A>G	NCBI36
NG_011648.1:g.16912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2493A>G MANE Select	ENSP00000290866.4:p.Thr831=
ENST00000290863.10:c.771A>G	ENSP00000290863.6:p.Thr257=
ENST00000290866.9:c.2493A>G	ENSP00000290866.4:p.Thr831=
ENST00000413513.7:c.771A>G	ENSP00000392247.3:p.Thr257=
ENST00000428043.5:c.2493A>G	ENSP00000397593.2:p.Thr831=
ENST00000577647.2:c.771A>G	ENSP00000464149.1:p.Thr257=
ENST00000578839.5:c.*519+193A>G	ENSP00000462110.2:n.*519+193A>G
ENST00000579204.1:c.752A>G	ENSP00000464629.1:n.752A>G
ENST00000579314.5:c.*222A>G	ENSP00000462599.1:n.*222A>G
ENST00000582005.5:c.*413A>G	ENSP00000462002.1:n.*413A>G
ENST00000582761.1:c.261A>G	ENSP00000462909.1:p.Thr87=
ENST00000584865.5:n.439A>G
NM_000789.3:c.2493A>G	NP_000780.1:p.Thr831=
NM_001178057.1:c.771A>G	NP_001171528.1:p.Thr257=
NM_152830.2:c.771A>G	NP_690043.1:p.Thr257=
XM_005257110.1:c.1944A>G	XP_005257167.1:p.Thr648=
XM_006721737.2:c.831A>G	XP_006721800.2:p.Thr277=
XM_006721737.3:c.831A>G	XP_006721800.2:p.Thr277=
NM_000789.4:c.2493A>G MANE Select	NP_000780.1:p.Thr831=
NM_001178057.2:c.771A>G	NP_001171528.1:p.Thr257=
NM_152830.3:c.771A>G	NP_690043.1:p.Thr257=
NM_001382700.1:c.1926A>G	NP_001369629.1:p.Thr642=
NM_001382701.1:c.1641A>G	NP_001369630.1:p.Thr547=
NM_001382702.1:c.379+193A>G	NP_001369631.1:n.379+193A>G
NR_168483.1:n.871A>G