Canonical Allele Identifier: CA501342274

Gene: ACE

Linked Data

• gnomAD v4: 17-63496811-C-T
• MyVariant Identifiers: chr17:g.61574172C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496811C>T , CM000679.2:g.63496811C>T	GRCh38
NC_000017.10:g.61574172C>T , CM000679.1:g.61574172C>T	GRCh37
NC_000017.9:g.58927904C>T	NCBI36
NG_011648.1:g.24739C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3517C>T MANE Select	ENSP00000290866.4:p.Leu1173=
ENST00000290863.10:c.1795C>T	ENSP00000290863.6:p.Leu599=
ENST00000290866.9:c.3517C>T	ENSP00000290866.4:p.Leu1173=
ENST00000413513.7:c.1672C>T	ENSP00000392247.3:p.Leu558=
ENST00000428043.5:c.3517C>T	ENSP00000397593.2:p.Leu1173=
ENST00000577418.5:n.527C>T
ENST00000577647.2:c.1795C>T	ENSP00000464149.1:p.Leu599=
ENST00000578839.5:c.*1272C>T	ENSP00000462110.2:n.*1272C>T
ENST00000579314.5:c.*1246C>T	ENSP00000462599.1:n.*1246C>T
ENST00000579409.1:c.204C>T
ENST00000582244.1:n.391C>T
NM_000789.3:c.3517C>T	NP_000780.1:p.Leu1173=
NM_001178057.1:c.1672C>T	NP_001171528.1:p.Leu558=
NM_152830.2:c.1795C>T	NP_690043.1:p.Leu599=
XM_005257110.1:c.2968C>T	XP_005257167.1:p.Leu990=
XM_006721737.2:c.1855C>T	XP_006721800.2:p.Leu619=
XM_006721737.3:c.1855C>T	XP_006721800.2:p.Leu619=
NM_000789.4:c.3517C>T MANE Select	NP_000780.1:p.Leu1173=
NM_001178057.2:c.1672C>T	NP_001171528.1:p.Leu558=
NM_152830.3:c.1795C>T	NP_690043.1:p.Leu599=
NM_001382700.1:c.2950C>T	NP_001369629.1:p.Leu984=
NM_001382701.1:c.2665C>T	NP_001369630.1:p.Leu889=
NM_001382702.1:c.1132C>T	NP_001369631.1:p.Leu378=
NR_168483.1:n.1895C>T