Canonical Allele Identifier: CA2810114513

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63495055C>T , CM000679.2:g.63495055C>T	GRCh38
NC_000017.10:g.61572416C>T , CM000679.1:g.61572416C>T	GRCh37
NC_000017.9:g.58926148C>T	NCBI36
NG_011648.1:g.22983C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.3380+585C>T MANE Select	ENSP00000290866.4:n.3380+585C>T
ENST00000290863.10:c.1658+585C>T	ENSP00000290863.6:n.1658+585C>T
ENST00000290866.9:c.3380+585C>T	ENSP00000290866.4:n.3380+585C>T
ENST00000413513.7:c.1658+585C>T	ENSP00000392247.3:n.1658+585C>T
ENST00000428043.5:c.3380+585C>T	ENSP00000397593.2:n.3380+585C>T
ENST00000577418.5:n.390+585C>T
ENST00000577647.2:c.1658+585C>T	ENSP00000464149.1:n.1658+585C>T
ENST00000578839.5:c.*1258+585C>T	ENSP00000462110.2:n.*1258+585C>T
ENST00000579314.5:c.*1109+585C>T	ENSP00000462599.1:n.*1109+585C>T
ENST00000579409.1:c.67+585C>T
NM_000789.3:c.3380+585C>T	NP_000780.1:n.3380+585C>T
NM_001178057.1:c.1658+585C>T	NP_001171528.1:n.1658+585C>T
NM_152830.2:c.1658+585C>T	NP_690043.1:n.1658+585C>T
XM_005257110.1:c.2831+585C>T	XP_005257167.1:n.2831+585C>T
XM_006721737.2:c.1718+585C>T	XP_006721800.2:n.1718+585C>T
XM_006721737.3:c.1718+585C>T	XP_006721800.2:n.1718+585C>T
NM_000789.4:c.3380+585C>T MANE Select	NP_000780.1:n.3380+585C>T
NM_001178057.2:c.1658+585C>T	NP_001171528.1:n.1658+585C>T
NM_152830.3:c.1658+585C>T	NP_690043.1:n.1658+585C>T
NM_001382700.1:c.2813+585C>T	NP_001369629.1:n.2813+585C>T
NM_001382701.1:c.2528+585C>T	NP_001369630.1:n.2528+585C>T
NM_001382702.1:c.1118+585C>T	NP_001369631.1:n.1118+585C>T
NR_168483.1:n.1758+585C>T