Canonical Allele Identifier: CA8699246

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480480G>A , CM000679.2:g.63480480G>A	GRCh38
NC_000017.10:g.61557841G>A , CM000679.1:g.61557841G>A	GRCh37
NC_000017.9:g.58911573G>A	NCBI36
NG_011648.1:g.8408G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.799G>A MANE Select	NP_000780.1:p.Gly267Arg
ENST00000290866.10:c.799G>A MANE Select	ENSP00000290866.4:p.Gly267Arg
NM_000789.3:c.799G>A	NP_000780.1:p.Gly267Arg
NM_001382700.1:c.326G>A	NP_001369629.1:p.Arg109Gln
NM_001382701.1:c.-54G>A	NP_001369630.1:n.-54G>A
ENST00000290866.9:c.799G>A	ENSP00000290866.4:p.Gly267Arg
ENST00000428043.5:c.799G>A	ENSP00000397593.2:p.Gly267Arg
ENST00000582627.1:c.799G>A	ENSP00000462280.1:p.Gly267Arg
ENST00000582678.5:c.*198G>A	ENSP00000462995.1:n.*198G>A
ENST00000584529.5:n.833G>A
XM_005257110.1:c.250G>A	XP_005257167.1:p.Gly84Arg