Canonical Allele Identifier: CA501342511

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574682C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497321C>T , CM000679.2:g.63497321C>T	GRCh38
NC_000017.10:g.61574682C>T , CM000679.1:g.61574682C>T	GRCh37
NC_000017.9:g.58928414C>T	NCBI36
NG_011648.1:g.25249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3876C>T MANE Select	ENSP00000290866.4:p.Ser1292=
ENST00000290863.10:c.2154C>T	ENSP00000290863.6:p.Ser718=
ENST00000290866.9:c.3876C>T	ENSP00000290866.4:p.Ser1292=
ENST00000413513.7:c.2031C>T	ENSP00000392247.3:p.Ser677=
ENST00000428043.5:c.*298C>T	ENSP00000397593.2:n.*298C>T
ENST00000577647.2:c.1969+336C>T	ENSP00000464149.1:n.1969+336C>T
ENST00000578839.5:c.*1631C>T	ENSP00000462110.2:n.*1631C>T
ENST00000579314.5:c.*1605C>T	ENSP00000462599.1:n.*1605C>T
NM_000789.3:c.3876C>T	NP_000780.1:p.Ser1292=
NM_001178057.1:c.2031C>T	NP_001171528.1:p.Ser677=
NM_152830.2:c.2154C>T	NP_690043.1:p.Ser718=
XM_005257110.1:c.3327C>T	XP_005257167.1:p.Ser1109=
XM_006721737.2:c.2214C>T	XP_006721800.2:p.Ser738=
XM_006721737.3:c.2214C>T	XP_006721800.2:p.Ser738=
NM_000789.4:c.3876C>T MANE Select	NP_000780.1:p.Ser1292=
NM_001178057.2:c.2031C>T	NP_001171528.1:p.Ser677=
NM_152830.3:c.2154C>T	NP_690043.1:p.Ser718=
NM_001382700.1:c.3309C>T	NP_001369629.1:p.Ser1103=
NM_001382701.1:c.3024C>T	NP_001369630.1:p.Ser1008=
NM_001382702.1:c.1491C>T	NP_001369631.1:p.Ser497=
NR_168483.1:n.2254C>T