Canonical Allele Identifier: CA8699845

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63485282T>C , CM000679.2:g.63485282T>C	GRCh38
NC_000017.10:g.61562643T>C , CM000679.1:g.61562643T>C	GRCh37
NC_000017.9:g.58916375T>C	NCBI36
NG_011648.1:g.13210T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1968T>C MANE Select	NP_000780.1:p.Tyr656=
ENST00000290866.10:c.1968T>C MANE Select	ENSP00000290866.4:p.Tyr656=
NM_000789.3:c.1968T>C	NP_000780.1:p.Tyr656=
NM_001178057.1:c.246T>C	NP_001171528.1:p.Tyr82=
NM_001178057.2:c.246T>C	NP_001171528.1:p.Tyr82=
NM_001382700.1:c.1401T>C	NP_001369629.1:p.Tyr467=
NM_001382701.1:c.1116T>C	NP_001369630.1:p.Tyr372=
NM_001382702.1:c.-103T>C	NP_001369631.1:n.-103T>C
NM_152830.2:c.246T>C	NP_690043.1:p.Tyr82=
NM_152830.3:c.246T>C	NP_690043.1:p.Tyr82=
NR_168483.1:n.268T>C
ENST00000290863.10:c.246T>C	ENSP00000290863.6:p.Tyr82=
ENST00000290866.9:c.1968T>C	ENSP00000290866.4:p.Tyr656=
ENST00000413513.7:c.246T>C	ENSP00000392247.3:p.Tyr82=
ENST00000428043.5:c.1968T>C	ENSP00000397593.2:p.Tyr656=
ENST00000577647.2:c.246T>C	ENSP00000464149.1:p.Tyr82=
ENST00000578839.5:c.*38T>C	ENSP00000462110.2:n.*38T>C
ENST00000579204.1:c.149T>C	ENSP00000464629.1:n.149T>C
ENST00000579314.5:c.246T>C	ENSP00000462599.1:p.Tyr82=
ENST00000579726.5:c.517T>C
ENST00000582005.5:c.246T>C	ENSP00000462002.1:p.Tyr82=
ENST00000582678.5:c.*1367T>C	ENSP00000462995.1:n.*1367T>C
XM_005257110.1:c.1419T>C	XP_005257167.1:p.Tyr473=
XM_006721737.2:c.306T>C	XP_006721800.2:p.Tyr102=
XM_006721737.3:c.306T>C	XP_006721800.2:p.Tyr102=