Canonical Allele Identifier: CA400549387

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559894C>G (hg19) ; chr17:g.63482533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482533C>G , CM000679.2:g.63482533C>G	GRCh38
NC_000017.10:g.61559894C>G , CM000679.1:g.61559894C>G	GRCh37
NC_000017.9:g.58913626C>G	NCBI36
NG_011648.1:g.10461C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1186C>G MANE Select	ENSP00000290866.4:p.Gln396Glu
ENST00000290866.9:c.1186C>G	ENSP00000290866.4:p.Gln396Glu
ENST00000428043.5:c.1186C>G	ENSP00000397593.2:p.Gln396Glu
ENST00000582678.5:c.*585C>G	ENSP00000462995.1:n.*585C>G
ENST00000584529.5:n.1220C>G
NM_000789.3:c.1186C>G	NP_000780.1:p.Gln396Glu
XM_005257110.1:c.637C>G	XP_005257167.1:p.Gln213Glu
NM_000789.4:c.1186C>G MANE Select	NP_000780.1:p.Gln396Glu
NM_001382700.1:c.619C>G	NP_001369629.1:p.Gln207Glu
NM_001382701.1:c.334C>G	NP_001369630.1:p.Gln112Glu