Canonical Allele Identifier: CA501183719

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63485303G>T , CM000679.2:g.63485303G>T	GRCh38
NC_000017.10:g.61562664G>T , CM000679.1:g.61562664G>T	GRCh37
NC_000017.9:g.58916396G>T	NCBI36
NG_011648.1:g.13231G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1989G>T MANE Select	NP_000780.1:p.Val663=
ENST00000290866.10:c.1989G>T MANE Select	ENSP00000290866.4:p.Val663=
NM_000789.3:c.1989G>T	NP_000780.1:p.Val663=
NM_001178057.1:c.267G>T	NP_001171528.1:p.Val89=
NM_001178057.2:c.267G>T	NP_001171528.1:p.Val89=
NM_001382700.1:c.1422G>T	NP_001369629.1:p.Val474=
NM_001382701.1:c.1137G>T	NP_001369630.1:p.Val379=
NM_001382702.1:c.-82G>T	NP_001369631.1:n.-82G>T
NM_152830.2:c.267G>T	NP_690043.1:p.Val89=
NM_152830.3:c.267G>T	NP_690043.1:p.Val89=
NR_168483.1:n.289G>T
ENST00000290863.10:c.267G>T	ENSP00000290863.6:p.Val89=
ENST00000290866.9:c.1989G>T	ENSP00000290866.4:p.Val663=
ENST00000413513.7:c.267G>T	ENSP00000392247.3:p.Val89=
ENST00000428043.5:c.1989G>T	ENSP00000397593.2:p.Val663=
ENST00000577647.2:c.267G>T	ENSP00000464149.1:p.Val89=
ENST00000578839.5:c.*59G>T	ENSP00000462110.2:n.*59G>T
ENST00000579204.1:c.170G>T	ENSP00000464629.1:n.170G>T
ENST00000579314.5:c.267G>T	ENSP00000462599.1:p.Val89=
ENST00000579726.5:c.538G>T
ENST00000582005.5:c.267G>T	ENSP00000462002.1:p.Val89=
ENST00000582678.5:c.*1388G>T	ENSP00000462995.1:n.*1388G>T
XM_005257110.1:c.1440G>T	XP_005257167.1:p.Val480=
XM_006721737.2:c.327G>T	XP_006721800.2:p.Val109=
XM_006721737.3:c.327G>T	XP_006721800.2:p.Val109=