Canonical Allele Identifier: CA400568326

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574508A>T (hg19) ; chr17:g.63497147A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497147A>T , CM000679.2:g.63497147A>T	GRCh38
NC_000017.10:g.61574508A>T , CM000679.1:g.61574508A>T	GRCh37
NC_000017.9:g.58928240A>T	NCBI36
NG_011648.1:g.25075A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3702A>T MANE Select	ENSP00000290866.4:p.Glu1234Asp
ENST00000290863.10:c.1980A>T	ENSP00000290863.6:p.Glu660Asp
ENST00000290866.9:c.3702A>T	ENSP00000290866.4:p.Glu1234Asp
ENST00000413513.7:c.1857A>T	ENSP00000392247.3:p.Glu619Asp
ENST00000428043.5:c.*124A>T	ENSP00000397593.2:n.*124A>T
ENST00000577418.5:n.712A>T
ENST00000577647.2:c.1969+162A>T	ENSP00000464149.1:n.1969+162A>T
ENST00000578839.5:c.*1457A>T	ENSP00000462110.2:n.*1457A>T
ENST00000579314.5:c.*1431A>T	ENSP00000462599.1:n.*1431A>T
ENST00000579409.1:c.540A>T
NM_000789.3:c.3702A>T	NP_000780.1:p.Glu1234Asp
NM_001178057.1:c.1857A>T	NP_001171528.1:p.Glu619Asp
NM_152830.2:c.1980A>T	NP_690043.1:p.Glu660Asp
XM_005257110.1:c.3153A>T	XP_005257167.1:p.Glu1051Asp
XM_006721737.2:c.2040A>T	XP_006721800.2:p.Glu680Asp
XM_006721737.3:c.2040A>T	XP_006721800.2:p.Glu680Asp
NM_000789.4:c.3702A>T MANE Select	NP_000780.1:p.Glu1234Asp
NM_001178057.2:c.1857A>T	NP_001171528.1:p.Glu619Asp
NM_152830.3:c.1980A>T	NP_690043.1:p.Glu660Asp
NM_001382700.1:c.3135A>T	NP_001369629.1:p.Glu1045Asp
NM_001382701.1:c.2850A>T	NP_001369630.1:p.Glu950Asp
NM_001382702.1:c.1317A>T	NP_001369631.1:p.Glu439Asp
NR_168483.1:n.2080A>T