Canonical Allele Identifier: CA8699847

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63485293C>G , CM000679.2:g.63485293C>G	GRCh38
NC_000017.10:g.61562654C>G , CM000679.1:g.61562654C>G	GRCh37
NC_000017.9:g.58916386C>G	NCBI36
NG_011648.1:g.13221C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1979C>G MANE Select	NP_000780.1:p.Ser660Cys
ENST00000290866.10:c.1979C>G MANE Select	ENSP00000290866.4:p.Ser660Cys
NM_000789.3:c.1979C>G	NP_000780.1:p.Ser660Cys
NM_001178057.1:c.257C>G	NP_001171528.1:p.Ser86Cys
NM_001178057.2:c.257C>G	NP_001171528.1:p.Ser86Cys
NM_001382700.1:c.1412C>G	NP_001369629.1:p.Ser471Cys
NM_001382701.1:c.1127C>G	NP_001369630.1:p.Ser376Cys
NM_001382702.1:c.-92C>G	NP_001369631.1:n.-92C>G
NM_152830.2:c.257C>G	NP_690043.1:p.Ser86Cys
NM_152830.3:c.257C>G	NP_690043.1:p.Ser86Cys
NR_168483.1:n.279C>G
ENST00000290863.10:c.257C>G	ENSP00000290863.6:p.Ser86Cys
ENST00000290866.9:c.1979C>G	ENSP00000290866.4:p.Ser660Cys
ENST00000413513.7:c.257C>G	ENSP00000392247.3:p.Ser86Cys
ENST00000428043.5:c.1979C>G	ENSP00000397593.2:p.Ser660Cys
ENST00000577647.2:c.257C>G	ENSP00000464149.1:p.Ser86Cys
ENST00000578839.5:c.*49C>G	ENSP00000462110.2:n.*49C>G
ENST00000579204.1:c.160C>G	ENSP00000464629.1:n.160C>G
ENST00000579314.5:c.257C>G	ENSP00000462599.1:p.Ser86Cys
ENST00000579726.5:c.528C>G
ENST00000582005.5:c.257C>G	ENSP00000462002.1:p.Ser86Cys
ENST00000582678.5:c.*1378C>G	ENSP00000462995.1:n.*1378C>G
XM_005257110.1:c.1430C>G	XP_005257167.1:p.Ser477Cys
XM_006721737.2:c.317C>G	XP_006721800.2:p.Ser106Cys
XM_006721737.3:c.317C>G	XP_006721800.2:p.Ser106Cys