Canonical Allele Identifier: CA400549352

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559890T>A (hg19) ; chr17:g.63482529T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482529T>A , CM000679.2:g.63482529T>A	GRCh38
NC_000017.10:g.61559890T>A , CM000679.1:g.61559890T>A	GRCh37
NC_000017.9:g.58913622T>A	NCBI36
NG_011648.1:g.10457T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1182T>A MANE Select	ENSP00000290866.4:p.His394Gln
ENST00000290866.9:c.1182T>A	ENSP00000290866.4:p.His394Gln
ENST00000428043.5:c.1182T>A	ENSP00000397593.2:p.His394Gln
ENST00000582678.5:c.*581T>A	ENSP00000462995.1:n.*581T>A
ENST00000584529.5:n.1216T>A
NM_000789.3:c.1182T>A	NP_000780.1:p.His394Gln
XM_005257110.1:c.633T>A	XP_005257167.1:p.His211Gln
NM_000789.4:c.1182T>A MANE Select	NP_000780.1:p.His394Gln
NM_001382700.1:c.615T>A	NP_001369629.1:p.His205Gln
NM_001382701.1:c.330T>A	NP_001369630.1:p.His110Gln