Canonical Allele Identifier: CA8699422

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482482C>T , CM000679.2:g.63482482C>T	GRCh38
NC_000017.10:g.61559843C>T , CM000679.1:g.61559843C>T	GRCh37
NC_000017.9:g.58913575C>T	NCBI36
NG_011648.1:g.10410C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1135C>T MANE Select	NP_000780.1:p.Arg379Trp
ENST00000290866.10:c.1135C>T MANE Select	ENSP00000290866.4:p.Arg379Trp
NM_000789.3:c.1135C>T	NP_000780.1:p.Arg379Trp
NM_001382700.1:c.568C>T	NP_001369629.1:p.Arg190Trp
NM_001382701.1:c.283C>T	NP_001369630.1:p.Arg95Trp
ENST00000290866.9:c.1135C>T	ENSP00000290866.4:p.Arg379Trp
ENST00000428043.5:c.1135C>T	ENSP00000397593.2:p.Arg379Trp
ENST00000582678.5:c.*534C>T	ENSP00000462995.1:n.*534C>T
ENST00000584529.5:n.1169C>T
XM_005257110.1:c.586C>T	XP_005257167.1:p.Arg196Trp