Canonical Allele Identifier: CA400568430

Gene: ACE

Linked Data

• dbSNP Id: rs1226490350
• gnomAD v2: 17-61574530-C-T
• gnomAD v3: 17-63497169-C-T
• gnomAD v4: 17-63497169-C-T
• COSMIC: COSM318474
• MyVariant Identifiers: chr17:g.61574530C>T (hg19) ; chr17:g.63497169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497169C>T , CM000679.2:g.63497169C>T	GRCh38
NC_000017.10:g.61574530C>T , CM000679.1:g.61574530C>T	GRCh37
NC_000017.9:g.58928262C>T	NCBI36
NG_011648.1:g.25097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3724C>T MANE Select	ENSP00000290866.4:p.Arg1242Cys
ENST00000290863.10:c.2002C>T	ENSP00000290863.6:p.Arg668Cys
ENST00000290866.9:c.3724C>T	ENSP00000290866.4:p.Arg1242Cys
ENST00000413513.7:c.1879C>T	ENSP00000392247.3:p.Arg627Cys
ENST00000428043.5:c.*146C>T	ENSP00000397593.2:n.*146C>T
ENST00000577647.2:c.1969+184C>T	ENSP00000464149.1:n.1969+184C>T
ENST00000578839.5:c.*1479C>T	ENSP00000462110.2:n.*1479C>T
ENST00000579314.5:c.*1453C>T	ENSP00000462599.1:n.*1453C>T
NM_000789.3:c.3724C>T	NP_000780.1:p.Arg1242Cys
NM_001178057.1:c.1879C>T	NP_001171528.1:p.Arg627Cys
NM_152830.2:c.2002C>T	NP_690043.1:p.Arg668Cys
XM_005257110.1:c.3175C>T	XP_005257167.1:p.Arg1059Cys
XM_006721737.2:c.2062C>T	XP_006721800.2:p.Arg688Cys
XM_006721737.3:c.2062C>T	XP_006721800.2:p.Arg688Cys
NM_000789.4:c.3724C>T MANE Select	NP_000780.1:p.Arg1242Cys
NM_001178057.2:c.1879C>T	NP_001171528.1:p.Arg627Cys
NM_152830.3:c.2002C>T	NP_690043.1:p.Arg668Cys
NM_001382700.1:c.3157C>T	NP_001369629.1:p.Arg1053Cys
NM_001382701.1:c.2872C>T	NP_001369630.1:p.Arg958Cys
NM_001382702.1:c.1339C>T	NP_001369631.1:p.Arg447Cys
NR_168483.1:n.2102C>T