Canonical Allele Identifier: CA2810114514

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63495068A>C , CM000679.2:g.63495068A>C	GRCh38
NC_000017.10:g.61572429A>C , CM000679.1:g.61572429A>C	GRCh37
NC_000017.9:g.58926161A>C	NCBI36
NG_011648.1:g.22996A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.3380+598A>C MANE Select	ENSP00000290866.4:n.3380+598A>C
ENST00000290863.10:c.1658+598A>C	ENSP00000290863.6:n.1658+598A>C
ENST00000290866.9:c.3380+598A>C	ENSP00000290866.4:n.3380+598A>C
ENST00000413513.7:c.1658+598A>C	ENSP00000392247.3:n.1658+598A>C
ENST00000428043.5:c.3380+598A>C	ENSP00000397593.2:n.3380+598A>C
ENST00000577418.5:n.390+598A>C
ENST00000577647.2:c.1658+598A>C	ENSP00000464149.1:n.1658+598A>C
ENST00000578839.5:c.*1258+598A>C	ENSP00000462110.2:n.*1258+598A>C
ENST00000579314.5:c.*1109+598A>C	ENSP00000462599.1:n.*1109+598A>C
ENST00000579409.1:c.67+598A>C
NM_000789.3:c.3380+598A>C	NP_000780.1:n.3380+598A>C
NM_001178057.1:c.1658+598A>C	NP_001171528.1:n.1658+598A>C
NM_152830.2:c.1658+598A>C	NP_690043.1:n.1658+598A>C
XM_005257110.1:c.2831+598A>C	XP_005257167.1:n.2831+598A>C
XM_006721737.2:c.1718+598A>C	XP_006721800.2:n.1718+598A>C
XM_006721737.3:c.1718+598A>C	XP_006721800.2:n.1718+598A>C
NM_000789.4:c.3380+598A>C MANE Select	NP_000780.1:n.3380+598A>C
NM_001178057.2:c.1658+598A>C	NP_001171528.1:n.1658+598A>C
NM_152830.3:c.1658+598A>C	NP_690043.1:n.1658+598A>C
NM_001382700.1:c.2813+598A>C	NP_001369629.1:n.2813+598A>C
NM_001382701.1:c.2528+598A>C	NP_001369630.1:n.2528+598A>C
NM_001382702.1:c.1118+598A>C	NP_001369631.1:n.1118+598A>C
NR_168483.1:n.1758+598A>C