Canonical Allele Identifier: CA400567517

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574288G>C (hg19) ; chr17:g.63496927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496927G>C , CM000679.2:g.63496927G>C	GRCh38
NC_000017.10:g.61574288G>C , CM000679.1:g.61574288G>C	GRCh37
NC_000017.9:g.58928020G>C	NCBI36
NG_011648.1:g.24855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3633G>C MANE Select	ENSP00000290866.4:p.Glu1211Asp
ENST00000290863.10:c.1911G>C	ENSP00000290863.6:p.Glu637Asp
ENST00000290866.9:c.3633G>C	ENSP00000290866.4:p.Glu1211Asp
ENST00000413513.7:c.1788G>C	ENSP00000392247.3:p.Glu596Asp
ENST00000428043.5:c.3633G>C	ENSP00000397593.2:p.Glu1211Asp
ENST00000577418.5:n.643G>C
ENST00000577647.2:c.1911G>C	ENSP00000464149.1:p.Glu637Asp
ENST00000578839.5:c.*1388G>C	ENSP00000462110.2:n.*1388G>C
ENST00000579314.5:c.*1362G>C	ENSP00000462599.1:n.*1362G>C
ENST00000579409.1:c.320G>C
ENST00000582244.1:n.507G>C
NM_000789.3:c.3633G>C	NP_000780.1:p.Glu1211Asp
NM_001178057.1:c.1788G>C	NP_001171528.1:p.Glu596Asp
NM_152830.2:c.1911G>C	NP_690043.1:p.Glu637Asp
XM_005257110.1:c.3084G>C	XP_005257167.1:p.Glu1028Asp
XM_006721737.2:c.1971G>C	XP_006721800.2:p.Glu657Asp
XM_006721737.3:c.1971G>C	XP_006721800.2:p.Glu657Asp
NM_000789.4:c.3633G>C MANE Select	NP_000780.1:p.Glu1211Asp
NM_001178057.2:c.1788G>C	NP_001171528.1:p.Glu596Asp
NM_152830.3:c.1911G>C	NP_690043.1:p.Glu637Asp
NM_001382700.1:c.3066G>C	NP_001369629.1:p.Glu1022Asp
NM_001382701.1:c.2781G>C	NP_001369630.1:p.Glu927Asp
NM_001382702.1:c.1248G>C	NP_001369631.1:p.Glu416Asp
NR_168483.1:n.2011G>C