Canonical Allele Identifier: CA400568676

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574564A>C (hg19) ; chr17:g.63497203A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497203A>C , CM000679.2:g.63497203A>C	GRCh38
NC_000017.10:g.61574564A>C , CM000679.1:g.61574564A>C	GRCh37
NC_000017.9:g.58928296A>C	NCBI36
NG_011648.1:g.25131A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3758A>C MANE Select	ENSP00000290866.4:p.Gln1253Pro
ENST00000290863.10:c.2036A>C	ENSP00000290863.6:p.Gln679Pro
ENST00000290866.9:c.3758A>C	ENSP00000290866.4:p.Gln1253Pro
ENST00000413513.7:c.1913A>C	ENSP00000392247.3:p.Gln638Pro
ENST00000428043.5:c.*180A>C	ENSP00000397593.2:n.*180A>C
ENST00000577647.2:c.1969+218A>C	ENSP00000464149.1:n.1969+218A>C
ENST00000578839.5:c.*1513A>C	ENSP00000462110.2:n.*1513A>C
ENST00000579314.5:c.*1487A>C	ENSP00000462599.1:n.*1487A>C
NM_000789.3:c.3758A>C	NP_000780.1:p.Gln1253Pro
NM_001178057.1:c.1913A>C	NP_001171528.1:p.Gln638Pro
NM_152830.2:c.2036A>C	NP_690043.1:p.Gln679Pro
XM_005257110.1:c.3209A>C	XP_005257167.1:p.Gln1070Pro
XM_006721737.2:c.2096A>C	XP_006721800.2:p.Gln699Pro
XM_006721737.3:c.2096A>C	XP_006721800.2:p.Gln699Pro
NM_000789.4:c.3758A>C MANE Select	NP_000780.1:p.Gln1253Pro
NM_001178057.2:c.1913A>C	NP_001171528.1:p.Gln638Pro
NM_152830.3:c.2036A>C	NP_690043.1:p.Gln679Pro
NM_001382700.1:c.3191A>C	NP_001369629.1:p.Gln1064Pro
NM_001382701.1:c.2906A>C	NP_001369630.1:p.Gln969Pro
NM_001382702.1:c.1373A>C	NP_001369631.1:p.Gln458Pro
NR_168483.1:n.2136A>C