Canonical Allele Identifier: CA400558234

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566357G>C (hg19) ; chr17:g.63488996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488996G>C , CM000679.2:g.63488996G>C	GRCh38
NC_000017.10:g.61566357G>C , CM000679.1:g.61566357G>C	GRCh37
NC_000017.9:g.58920089G>C	NCBI36
NG_011648.1:g.16924G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2505G>C MANE Select	ENSP00000290866.4:p.Glu835Asp
ENST00000290863.10:c.783G>C	ENSP00000290863.6:p.Glu261Asp
ENST00000290866.9:c.2505G>C	ENSP00000290866.4:p.Glu835Asp
ENST00000413513.7:c.783G>C	ENSP00000392247.3:p.Glu261Asp
ENST00000428043.5:c.2505G>C	ENSP00000397593.2:p.Glu835Asp
ENST00000577647.2:c.783G>C	ENSP00000464149.1:p.Glu261Asp
ENST00000578839.5:c.*519+205G>C	ENSP00000462110.2:n.*519+205G>C
ENST00000579204.1:c.764G>C	ENSP00000464629.1:n.764G>C
ENST00000579314.5:c.*234G>C	ENSP00000462599.1:n.*234G>C
ENST00000582005.5:c.*425G>C	ENSP00000462002.1:n.*425G>C
ENST00000582761.1:c.273G>C	ENSP00000462909.1:p.Glu91Asp
ENST00000584865.5:n.451G>C
NM_000789.3:c.2505G>C	NP_000780.1:p.Glu835Asp
NM_001178057.1:c.783G>C	NP_001171528.1:p.Glu261Asp
NM_152830.2:c.783G>C	NP_690043.1:p.Glu261Asp
XM_005257110.1:c.1956G>C	XP_005257167.1:p.Glu652Asp
XM_006721737.2:c.843G>C	XP_006721800.2:p.Glu281Asp
XM_006721737.3:c.843G>C	XP_006721800.2:p.Glu281Asp
NM_000789.4:c.2505G>C MANE Select	NP_000780.1:p.Glu835Asp
NM_001178057.2:c.783G>C	NP_001171528.1:p.Glu261Asp
NM_152830.3:c.783G>C	NP_690043.1:p.Glu261Asp
NM_001382700.1:c.1938G>C	NP_001369629.1:p.Glu646Asp
NM_001382701.1:c.1653G>C	NP_001369630.1:p.Glu551Asp
NM_001382702.1:c.379+205G>C	NP_001369631.1:n.379+205G>C
NR_168483.1:n.883G>C