Canonical Allele Identifier: CA501342252

Gene: ACE

Linked Data

• gnomAD v4: 17-63497141-C-T
• COSMIC: COSM4658804 ; COSM4658805
• MyVariant Identifiers: chr17:g.61574502C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497141C>T , CM000679.2:g.63497141C>T	GRCh38
NC_000017.10:g.61574502C>T , CM000679.1:g.61574502C>T	GRCh37
NC_000017.9:g.58928234C>T	NCBI36
NG_011648.1:g.25069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3696C>T MANE Select	ENSP00000290866.4:p.Arg1232=
ENST00000290863.10:c.1974C>T	ENSP00000290863.6:p.Arg658=
ENST00000290866.9:c.3696C>T	ENSP00000290866.4:p.Arg1232=
ENST00000413513.7:c.1851C>T	ENSP00000392247.3:p.Arg617=
ENST00000428043.5:c.*118C>T	ENSP00000397593.2:n.*118C>T
ENST00000577418.5:n.706C>T
ENST00000577647.2:c.1969+156C>T	ENSP00000464149.1:n.1969+156C>T
ENST00000578839.5:c.*1451C>T	ENSP00000462110.2:n.*1451C>T
ENST00000579314.5:c.*1425C>T	ENSP00000462599.1:n.*1425C>T
ENST00000579409.1:c.534C>T
NM_000789.3:c.3696C>T	NP_000780.1:p.Arg1232=
NM_001178057.1:c.1851C>T	NP_001171528.1:p.Arg617=
NM_152830.2:c.1974C>T	NP_690043.1:p.Arg658=
XM_005257110.1:c.3147C>T	XP_005257167.1:p.Arg1049=
XM_006721737.2:c.2034C>T	XP_006721800.2:p.Arg678=
XM_006721737.3:c.2034C>T	XP_006721800.2:p.Arg678=
NM_000789.4:c.3696C>T MANE Select	NP_000780.1:p.Arg1232=
NM_001178057.2:c.1851C>T	NP_001171528.1:p.Arg617=
NM_152830.3:c.1974C>T	NP_690043.1:p.Arg658=
NM_001382700.1:c.3129C>T	NP_001369629.1:p.Arg1043=
NM_001382701.1:c.2844C>T	NP_001369630.1:p.Arg948=
NM_001382702.1:c.1311C>T	NP_001369631.1:p.Arg437=
NR_168483.1:n.2074C>T