Canonical Allele Identifier: CA985400093

Gene: ACE

Linked Data

• dbSNP Id: rs2030883589
• gnomAD v3: 17-63498043-C-T
• gnomAD v4: 17-63498043-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498043C>T , CM000679.2:g.63498043C>T	GRCh38
NC_000017.10:g.61575404C>T , CM000679.1:g.61575404C>T	GRCh37
NC_000017.9:g.58929136C>T	NCBI36
NG_011648.1:g.25971C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.*677C>T MANE Select	ENSP00000290866.4:n.*677C>T
ENST00000290866.9:c.*677C>T	ENSP00000290866.4:n.*677C>T
ENST00000428043.5:c.*1020C>T	ENSP00000397593.2:n.*1020C>T
ENST00000577647.2:c.1969+1058C>T	ENSP00000464149.1:n.1969+1058C>T
NM_000789.3:c.*677C>T	NP_000780.1:n.*677C>T
NM_001178057.1:c.*677C>T	NP_001171528.1:n.*677C>T
NM_152830.2:c.*677C>T	NP_690043.1:n.*677C>T
XM_005257110.1:c.*677C>T	XP_005257167.1:n.*677C>T
XM_006721737.2:c.*677C>T	XP_006721800.2:n.*677C>T
NM_000789.4:c.*677C>T MANE Select	NP_000780.1:n.*677C>T
NM_001178057.2:c.*677C>T	NP_001171528.1:n.*677C>T
NM_152830.3:c.*677C>T	NP_690043.1:n.*677C>T
NM_001382700.1:c.*677C>T	NP_001369629.1:n.*677C>T
NM_001382701.1:c.*677C>T	NP_001369630.1:n.*677C>T
NM_001382702.1:c.*677C>T	NP_001369631.1:n.*677C>T
NR_168483.1:n.2976C>T