Canonical Allele Identifier: CA2596708377

Gene: ACE

Linked Data

• dbSNP Id: rs1247160133
• gnomAD v3: 17-63497998-G-T
• gnomAD v4: 17-63497998-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497998G>T , CM000679.2:g.63497998G>T	GRCh38
NC_000017.10:g.61575359G>T , CM000679.1:g.61575359G>T	GRCh37
NC_000017.9:g.58929091G>T	NCBI36
NG_011648.1:g.25926G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*632G>T MANE Select	ENSP00000290866.4:n.*632G>T
ENST00000290866.9:c.*632G>T	ENSP00000290866.4:n.*632G>T
ENST00000428043.5:c.*975G>T	ENSP00000397593.2:n.*975G>T
ENST00000577647.2:c.1969+1013G>T	ENSP00000464149.1:n.1969+1013G>T
NM_000789.3:c.*632G>T	NP_000780.1:n.*632G>T
NM_001178057.1:c.*632G>T	NP_001171528.1:n.*632G>T
NM_152830.2:c.*632G>T	NP_690043.1:n.*632G>T
XM_005257110.1:c.*632G>T	XP_005257167.1:n.*632G>T
XM_006721737.2:c.*632G>T	XP_006721800.2:n.*632G>T
NM_000789.4:c.*632G>T MANE Select	NP_000780.1:n.*632G>T
NM_001178057.2:c.*632G>T	NP_001171528.1:n.*632G>T
NM_152830.3:c.*632G>T	NP_690043.1:n.*632G>T
NM_001382700.1:c.*632G>T	NP_001369629.1:n.*632G>T
NM_001382701.1:c.*632G>T	NP_001369630.1:n.*632G>T
NM_001382702.1:c.*632G>T	NP_001369631.1:n.*632G>T
NR_168483.1:n.2931G>T