Canonical Allele Identifier: CA400568896

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574602G>C (hg19) ; chr17:g.63497241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497241G>C , CM000679.2:g.63497241G>C	GRCh38
NC_000017.10:g.61574602G>C , CM000679.1:g.61574602G>C	GRCh37
NC_000017.9:g.58928334G>C	NCBI36
NG_011648.1:g.25169G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3796G>C MANE Select	ENSP00000290866.4:p.Gly1266Arg
ENST00000290863.10:c.2074G>C	ENSP00000290863.6:p.Gly692Arg
ENST00000290866.9:c.3796G>C	ENSP00000290866.4:p.Gly1266Arg
ENST00000413513.7:c.1951G>C	ENSP00000392247.3:p.Gly651Arg
ENST00000428043.5:c.*218G>C	ENSP00000397593.2:n.*218G>C
ENST00000577647.2:c.1969+256G>C	ENSP00000464149.1:n.1969+256G>C
ENST00000578839.5:c.*1551G>C	ENSP00000462110.2:n.*1551G>C
ENST00000579314.5:c.*1525G>C	ENSP00000462599.1:n.*1525G>C
NM_000789.3:c.3796G>C	NP_000780.1:p.Gly1266Arg
NM_001178057.1:c.1951G>C	NP_001171528.1:p.Gly651Arg
NM_152830.2:c.2074G>C	NP_690043.1:p.Gly692Arg
XM_005257110.1:c.3247G>C	XP_005257167.1:p.Gly1083Arg
XM_006721737.2:c.2134G>C	XP_006721800.2:p.Gly712Arg
XM_006721737.3:c.2134G>C	XP_006721800.2:p.Gly712Arg
NM_000789.4:c.3796G>C MANE Select	NP_000780.1:p.Gly1266Arg
NM_001178057.2:c.1951G>C	NP_001171528.1:p.Gly651Arg
NM_152830.3:c.2074G>C	NP_690043.1:p.Gly692Arg
NM_001382700.1:c.3229G>C	NP_001369629.1:p.Gly1077Arg
NM_001382701.1:c.2944G>C	NP_001369630.1:p.Gly982Arg
NM_001382702.1:c.1411G>C	NP_001369631.1:p.Gly471Arg
NR_168483.1:n.2174G>C