Canonical Allele Identifier: CA400544710

Gene: ACE

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.799G>C MANE Select	NP_000780.1:p.Gly267Arg
ENST00000290866.10:c.799G>C MANE Select	ENSP00000290866.4:p.Gly267Arg
NM_000789.3:c.799G>C	NP_000780.1:p.Gly267Arg
NM_001382700.1:c.326G>C	NP_001369629.1:p.Arg109Pro
NM_001382701.1:c.-54G>C	NP_001369630.1:n.-54G>C
ENST00000290866.9:c.799G>C	ENSP00000290866.4:p.Gly267Arg
ENST00000428043.5:c.799G>C	ENSP00000397593.2:p.Gly267Arg
ENST00000582627.1:c.799G>C	ENSP00000462280.1:p.Gly267Arg
ENST00000582678.5:c.*198G>C	ENSP00000462995.1:n.*198G>C
ENST00000584529.5:n.833G>C
XM_005257110.1:c.250G>C	XP_005257167.1:p.Gly84Arg