Canonical Allele Identifier: CA400567598

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574300T>A (hg19) ; chr17:g.63496939T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496939T>A , CM000679.2:g.63496939T>A	GRCh38
NC_000017.10:g.61574300T>A , CM000679.1:g.61574300T>A	GRCh37
NC_000017.9:g.58928032T>A	NCBI36
NG_011648.1:g.24867T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3645T>A MANE Select	ENSP00000290866.4:p.His1215Gln
ENST00000290863.10:c.1923T>A	ENSP00000290863.6:p.His641Gln
ENST00000290866.9:c.3645T>A	ENSP00000290866.4:p.His1215Gln
ENST00000413513.7:c.1800T>A	ENSP00000392247.3:p.His600Gln
ENST00000428043.5:c.3645T>A	ENSP00000397593.2:p.His1215Gln
ENST00000577418.5:n.655T>A
ENST00000577647.2:c.1923T>A	ENSP00000464149.1:p.His641Gln
ENST00000578839.5:c.*1400T>A	ENSP00000462110.2:n.*1400T>A
ENST00000579314.5:c.*1374T>A	ENSP00000462599.1:n.*1374T>A
ENST00000579409.1:c.332T>A
ENST00000582244.1:n.519T>A
NM_000789.3:c.3645T>A	NP_000780.1:p.His1215Gln
NM_001178057.1:c.1800T>A	NP_001171528.1:p.His600Gln
NM_152830.2:c.1923T>A	NP_690043.1:p.His641Gln
XM_005257110.1:c.3096T>A	XP_005257167.1:p.His1032Gln
XM_006721737.2:c.1983T>A	XP_006721800.2:p.His661Gln
XM_006721737.3:c.1983T>A	XP_006721800.2:p.His661Gln
NM_000789.4:c.3645T>A MANE Select	NP_000780.1:p.His1215Gln
NM_001178057.2:c.1800T>A	NP_001171528.1:p.His600Gln
NM_152830.3:c.1923T>A	NP_690043.1:p.His641Gln
NM_001382700.1:c.3078T>A	NP_001369629.1:p.His1026Gln
NM_001382701.1:c.2793T>A	NP_001369630.1:p.His931Gln
NM_001382702.1:c.1260T>A	NP_001369631.1:p.His420Gln
NR_168483.1:n.2023T>A