Canonical Allele Identifier: CA400568831

Gene: ACE

Linked Data

• gnomAD v4: 17-63497230-T-A
• MyVariant Identifiers: chr17:g.61574591T>A (hg19) ; chr17:g.63497230T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497230T>A , CM000679.2:g.63497230T>A	GRCh38
NC_000017.10:g.61574591T>A , CM000679.1:g.61574591T>A	GRCh37
NC_000017.9:g.58928323T>A	NCBI36
NG_011648.1:g.25158T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3785T>A MANE Select	ENSP00000290866.4:p.Leu1262Gln
ENST00000290863.10:c.2063T>A	ENSP00000290863.6:p.Leu688Gln
ENST00000290866.9:c.3785T>A	ENSP00000290866.4:p.Leu1262Gln
ENST00000413513.7:c.1940T>A	ENSP00000392247.3:p.Leu647Gln
ENST00000428043.5:c.*207T>A	ENSP00000397593.2:n.*207T>A
ENST00000577647.2:c.1969+245T>A	ENSP00000464149.1:n.1969+245T>A
ENST00000578839.5:c.*1540T>A	ENSP00000462110.2:n.*1540T>A
ENST00000579314.5:c.*1514T>A	ENSP00000462599.1:n.*1514T>A
NM_000789.3:c.3785T>A	NP_000780.1:p.Leu1262Gln
NM_001178057.1:c.1940T>A	NP_001171528.1:p.Leu647Gln
NM_152830.2:c.2063T>A	NP_690043.1:p.Leu688Gln
XM_005257110.1:c.3236T>A	XP_005257167.1:p.Leu1079Gln
XM_006721737.2:c.2123T>A	XP_006721800.2:p.Leu708Gln
XM_006721737.3:c.2123T>A	XP_006721800.2:p.Leu708Gln
NM_000789.4:c.3785T>A MANE Select	NP_000780.1:p.Leu1262Gln
NM_001178057.2:c.1940T>A	NP_001171528.1:p.Leu647Gln
NM_152830.3:c.2063T>A	NP_690043.1:p.Leu688Gln
NM_001382700.1:c.3218T>A	NP_001369629.1:p.Leu1073Gln
NM_001382701.1:c.2933T>A	NP_001369630.1:p.Leu978Gln
NM_001382702.1:c.1400T>A	NP_001369631.1:p.Leu467Gln
NR_168483.1:n.2163T>A