Canonical Allele Identifier: CA400568690

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574566C>A (hg19) ; chr17:g.63497205C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497205C>A , CM000679.2:g.63497205C>A	GRCh38
NC_000017.10:g.61574566C>A , CM000679.1:g.61574566C>A	GRCh37
NC_000017.9:g.58928298C>A	NCBI36
NG_011648.1:g.25133C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3760C>A MANE Select	ENSP00000290866.4:p.Gln1254Lys
ENST00000290863.10:c.2038C>A	ENSP00000290863.6:p.Gln680Lys
ENST00000290866.9:c.3760C>A	ENSP00000290866.4:p.Gln1254Lys
ENST00000413513.7:c.1915C>A	ENSP00000392247.3:p.Gln639Lys
ENST00000428043.5:c.*182C>A	ENSP00000397593.2:n.*182C>A
ENST00000577647.2:c.1969+220C>A	ENSP00000464149.1:n.1969+220C>A
ENST00000578839.5:c.*1515C>A	ENSP00000462110.2:n.*1515C>A
ENST00000579314.5:c.*1489C>A	ENSP00000462599.1:n.*1489C>A
NM_000789.3:c.3760C>A	NP_000780.1:p.Gln1254Lys
NM_001178057.1:c.1915C>A	NP_001171528.1:p.Gln639Lys
NM_152830.2:c.2038C>A	NP_690043.1:p.Gln680Lys
XM_005257110.1:c.3211C>A	XP_005257167.1:p.Gln1071Lys
XM_006721737.2:c.2098C>A	XP_006721800.2:p.Gln700Lys
XM_006721737.3:c.2098C>A	XP_006721800.2:p.Gln700Lys
NM_000789.4:c.3760C>A MANE Select	NP_000780.1:p.Gln1254Lys
NM_001178057.2:c.1915C>A	NP_001171528.1:p.Gln639Lys
NM_152830.3:c.2038C>A	NP_690043.1:p.Gln680Lys
NM_001382700.1:c.3193C>A	NP_001369629.1:p.Gln1065Lys
NM_001382701.1:c.2908C>A	NP_001369630.1:p.Gln970Lys
NM_001382702.1:c.1375C>A	NP_001369631.1:p.Gln459Lys
NR_168483.1:n.2138C>A