Canonical Allele Identifier: CA501342434

Gene: ACE

Linked Data

• dbSNP Id: rs2030822469
• gnomAD v4: 17-63497294-C-T
• MyVariant Identifiers: chr17:g.61574655C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497294C>T , CM000679.2:g.63497294C>T	GRCh38
NC_000017.10:g.61574655C>T , CM000679.1:g.61574655C>T	GRCh37
NC_000017.9:g.58928387C>T	NCBI36
NG_011648.1:g.25222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3849C>T MANE Select	ENSP00000290866.4:p.Ile1283=
ENST00000290863.10:c.2127C>T	ENSP00000290863.6:p.Ile709=
ENST00000290866.9:c.3849C>T	ENSP00000290866.4:p.Ile1283=
ENST00000413513.7:c.2004C>T	ENSP00000392247.3:p.Ile668=
ENST00000428043.5:c.*271C>T	ENSP00000397593.2:n.*271C>T
ENST00000577647.2:c.1969+309C>T	ENSP00000464149.1:n.1969+309C>T
ENST00000578839.5:c.*1604C>T	ENSP00000462110.2:n.*1604C>T
ENST00000579314.5:c.*1578C>T	ENSP00000462599.1:n.*1578C>T
NM_000789.3:c.3849C>T	NP_000780.1:p.Ile1283=
NM_001178057.1:c.2004C>T	NP_001171528.1:p.Ile668=
NM_152830.2:c.2127C>T	NP_690043.1:p.Ile709=
XM_005257110.1:c.3300C>T	XP_005257167.1:p.Ile1100=
XM_006721737.2:c.2187C>T	XP_006721800.2:p.Ile729=
XM_006721737.3:c.2187C>T	XP_006721800.2:p.Ile729=
NM_000789.4:c.3849C>T MANE Select	NP_000780.1:p.Ile1283=
NM_001178057.2:c.2004C>T	NP_001171528.1:p.Ile668=
NM_152830.3:c.2127C>T	NP_690043.1:p.Ile709=
NM_001382700.1:c.3282C>T	NP_001369629.1:p.Ile1094=
NM_001382701.1:c.2997C>T	NP_001369630.1:p.Ile999=
NM_001382702.1:c.1464C>T	NP_001369631.1:p.Ile488=
NR_168483.1:n.2227C>T