Canonical Allele Identifier: CA8699359

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63481640C>T , CM000679.2:g.63481640C>T	GRCh38
NC_000017.10:g.61559001C>T , CM000679.1:g.61559001C>T	GRCh37
NC_000017.9:g.58912733C>T	NCBI36
NG_011648.1:g.9568C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1020C>T MANE Select	NP_000780.1:p.Pro340=
ENST00000290866.10:c.1020C>T MANE Select	ENSP00000290866.4:p.Pro340=
NM_000789.3:c.1020C>T	NP_000780.1:p.Pro340=
NM_001382700.1:c.472+452C>T	NP_001369629.1:n.472+452C>T
NM_001382701.1:c.168C>T	NP_001369630.1:p.Pro56=
ENST00000290866.9:c.1020C>T	ENSP00000290866.4:p.Pro340=
ENST00000428043.5:c.1020C>T	ENSP00000397593.2:p.Pro340=
ENST00000582678.5:c.*419C>T	ENSP00000462995.1:n.*419C>T
ENST00000584529.5:n.1054C>T
XM_005257110.1:c.471C>T	XP_005257167.1:p.Pro157=