Canonical Allele Identifier: CA400569289

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574660A>C (hg19) ; chr17:g.63497299A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497299A>C , CM000679.2:g.63497299A>C	GRCh38
NC_000017.10:g.61574660A>C , CM000679.1:g.61574660A>C	GRCh37
NC_000017.9:g.58928392A>C	NCBI36
NG_011648.1:g.25227A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3854A>C MANE Select	ENSP00000290866.4:p.His1285Pro
ENST00000290863.10:c.2132A>C	ENSP00000290863.6:p.His711Pro
ENST00000290866.9:c.3854A>C	ENSP00000290866.4:p.His1285Pro
ENST00000413513.7:c.2009A>C	ENSP00000392247.3:p.His670Pro
ENST00000428043.5:c.*276A>C	ENSP00000397593.2:n.*276A>C
ENST00000577647.2:c.1969+314A>C	ENSP00000464149.1:n.1969+314A>C
ENST00000578839.5:c.*1609A>C	ENSP00000462110.2:n.*1609A>C
ENST00000579314.5:c.*1583A>C	ENSP00000462599.1:n.*1583A>C
NM_000789.3:c.3854A>C	NP_000780.1:p.His1285Pro
NM_001178057.1:c.2009A>C	NP_001171528.1:p.His670Pro
NM_152830.2:c.2132A>C	NP_690043.1:p.His711Pro
XM_005257110.1:c.3305A>C	XP_005257167.1:p.His1102Pro
XM_006721737.2:c.2192A>C	XP_006721800.2:p.His731Pro
XM_006721737.3:c.2192A>C	XP_006721800.2:p.His731Pro
NM_000789.4:c.3854A>C MANE Select	NP_000780.1:p.His1285Pro
NM_001178057.2:c.2009A>C	NP_001171528.1:p.His670Pro
NM_152830.3:c.2132A>C	NP_690043.1:p.His711Pro
NM_001382700.1:c.3287A>C	NP_001369629.1:p.His1096Pro
NM_001382701.1:c.3002A>C	NP_001369630.1:p.His1001Pro
NM_001382702.1:c.1469A>C	NP_001369631.1:p.His490Pro
NR_168483.1:n.2232A>C