Canonical Allele Identifier: CA400567558

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574294G>C (hg19) ; chr17:g.63496933G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496933G>C , CM000679.2:g.63496933G>C	GRCh38
NC_000017.10:g.61574294G>C , CM000679.1:g.61574294G>C	GRCh37
NC_000017.9:g.58928026G>C	NCBI36
NG_011648.1:g.24861G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3639G>C MANE Select	ENSP00000290866.4:p.Glu1213Asp
ENST00000290863.10:c.1917G>C	ENSP00000290863.6:p.Glu639Asp
ENST00000290866.9:c.3639G>C	ENSP00000290866.4:p.Glu1213Asp
ENST00000413513.7:c.1794G>C	ENSP00000392247.3:p.Glu598Asp
ENST00000428043.5:c.3639G>C	ENSP00000397593.2:p.Glu1213Asp
ENST00000577418.5:n.649G>C
ENST00000577647.2:c.1917G>C	ENSP00000464149.1:p.Glu639Asp
ENST00000578839.5:c.*1394G>C	ENSP00000462110.2:n.*1394G>C
ENST00000579314.5:c.*1368G>C	ENSP00000462599.1:n.*1368G>C
ENST00000579409.1:c.326G>C
ENST00000582244.1:n.513G>C
NM_000789.3:c.3639G>C	NP_000780.1:p.Glu1213Asp
NM_001178057.1:c.1794G>C	NP_001171528.1:p.Glu598Asp
NM_152830.2:c.1917G>C	NP_690043.1:p.Glu639Asp
XM_005257110.1:c.3090G>C	XP_005257167.1:p.Glu1030Asp
XM_006721737.2:c.1977G>C	XP_006721800.2:p.Glu659Asp
XM_006721737.3:c.1977G>C	XP_006721800.2:p.Glu659Asp
NM_000789.4:c.3639G>C MANE Select	NP_000780.1:p.Glu1213Asp
NM_001178057.2:c.1794G>C	NP_001171528.1:p.Glu598Asp
NM_152830.3:c.1917G>C	NP_690043.1:p.Glu639Asp
NM_001382700.1:c.3072G>C	NP_001369629.1:p.Glu1024Asp
NM_001382701.1:c.2787G>C	NP_001369630.1:p.Glu929Asp
NM_001382702.1:c.1254G>C	NP_001369631.1:p.Glu418Asp
NR_168483.1:n.2017G>C