Canonical Allele Identifier: CA400538241

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477114G>T , CM000679.2:g.63477114G>T	GRCh38
NC_000017.10:g.61554475G>T , CM000679.1:g.61554475G>T	GRCh37
NC_000017.9:g.58908207G>T	NCBI36
NG_011648.1:g.5042G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.20G>T MANE Select	ENSP00000290866.4:p.Arg7Leu
ENST00000290866.9:c.20G>T	ENSP00000290866.4:p.Arg7Leu
ENST00000428043.5:c.20G>T	ENSP00000397593.2:p.Arg7Leu
ENST00000579462.1:n.45G>T
ENST00000582678.5:c.20G>T	ENSP00000462995.1:p.Arg7Leu
ENST00000583336.5:n.54G>T
ENST00000584529.5:n.54G>T
NM_000789.3:c.20G>T	NP_000780.1:p.Arg7Leu
XM_005257110.1:c.-436G>T	XP_005257167.1:n.-436G>T
NM_000789.4:c.20G>T MANE Select	NP_000780.1:p.Arg7Leu
NM_001382700.1:c.-216G>T	NP_001369629.1:n.-216G>T
NM_001382701.1:c.-595G>T	NP_001369630.1:n.-595G>T