Canonical Allele Identifier: CA501187460

Gene: ACE

Linked Data

• gnomAD v4: 17-63488766-C-T
• MyVariant Identifiers: chr17:g.61566127C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488766C>T , CM000679.2:g.63488766C>T	GRCh38
NC_000017.10:g.61566127C>T , CM000679.1:g.61566127C>T	GRCh37
NC_000017.9:g.58919859C>T	NCBI36
NG_011648.1:g.16694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2424C>T MANE Select	ENSP00000290866.4:p.Leu808=
ENST00000290863.10:c.702C>T	ENSP00000290863.6:p.Leu234=
ENST00000290866.9:c.2424C>T	ENSP00000290866.4:p.Leu808=
ENST00000413513.7:c.702C>T	ENSP00000392247.3:p.Leu234=
ENST00000428043.5:c.2424C>T	ENSP00000397593.2:p.Leu808=
ENST00000577647.2:c.702C>T	ENSP00000464149.1:p.Leu234=
ENST00000578839.5:c.*494C>T	ENSP00000462110.2:n.*494C>T
ENST00000579204.1:c.683C>T	ENSP00000464629.1:n.683C>T
ENST00000579314.5:c.*153C>T	ENSP00000462599.1:n.*153C>T
ENST00000582005.5:c.*344C>T	ENSP00000462002.1:n.*344C>T
ENST00000582761.1:c.192C>T	ENSP00000462909.1:p.Leu64=
ENST00000584865.5:n.370C>T
NM_000789.3:c.2424C>T	NP_000780.1:p.Leu808=
NM_001178057.1:c.702C>T	NP_001171528.1:p.Leu234=
NM_152830.2:c.702C>T	NP_690043.1:p.Leu234=
XM_005257110.1:c.1875C>T	XP_005257167.1:p.Leu625=
XM_006721737.2:c.762C>T	XP_006721800.2:p.Leu254=
XM_006721737.3:c.762C>T	XP_006721800.2:p.Leu254=
NM_000789.4:c.2424C>T MANE Select	NP_000780.1:p.Leu808=
NM_001178057.2:c.702C>T	NP_001171528.1:p.Leu234=
NM_152830.3:c.702C>T	NP_690043.1:p.Leu234=
NM_001382700.1:c.1857C>T	NP_001369629.1:p.Leu619=
NM_001382701.1:c.1572C>T	NP_001369630.1:p.Leu524=
NM_001382702.1:c.354C>T	NP_001369631.1:p.Leu118=
NR_168483.1:n.802C>T