Canonical Allele Identifier: CA400548891

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559850C>A (hg19) ; chr17:g.63482489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482489C>A , CM000679.2:g.63482489C>A	GRCh38
NC_000017.10:g.61559850C>A , CM000679.1:g.61559850C>A	GRCh37
NC_000017.9:g.58913582C>A	NCBI36
NG_011648.1:g.10417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1142C>A MANE Select	ENSP00000290866.4:p.Thr381Lys
ENST00000290866.9:c.1142C>A	ENSP00000290866.4:p.Thr381Lys
ENST00000428043.5:c.1142C>A	ENSP00000397593.2:p.Thr381Lys
ENST00000582678.5:c.*541C>A	ENSP00000462995.1:n.*541C>A
ENST00000584529.5:n.1176C>A
NM_000789.3:c.1142C>A	NP_000780.1:p.Thr381Lys
XM_005257110.1:c.593C>A	XP_005257167.1:p.Thr198Lys
NM_000789.4:c.1142C>A MANE Select	NP_000780.1:p.Thr381Lys
NM_001382700.1:c.575C>A	NP_001369629.1:p.Thr192Lys
NM_001382701.1:c.290C>A	NP_001369630.1:p.Thr97Lys