Canonical Allele Identifier: CA400556086

Gene: ACE

Linked Data

• gnomAD v4: 17-63486645-C-T
• MyVariant Identifiers: chr17:g.61564006C>T (hg19) ; chr17:g.63486645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486645C>T , CM000679.2:g.63486645C>T	GRCh38
NC_000017.10:g.61564006C>T , CM000679.1:g.61564006C>T	GRCh37
NC_000017.9:g.58917738C>T	NCBI36
NG_011648.1:g.14573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2147C>T MANE Select	ENSP00000290866.4:p.Thr716Ile
ENST00000290863.10:c.425C>T	ENSP00000290863.6:p.Thr142Ile
ENST00000290866.9:c.2147C>T	ENSP00000290866.4:p.Thr716Ile
ENST00000413513.7:c.425C>T	ENSP00000392247.3:p.Thr142Ile
ENST00000428043.5:c.2147C>T	ENSP00000397593.2:p.Thr716Ile
ENST00000577647.2:c.425C>T	ENSP00000464149.1:p.Thr142Ile
ENST00000578839.5:c.*217C>T	ENSP00000462110.2:n.*217C>T
ENST00000579204.1:c.328C>T	ENSP00000464629.1:n.328C>T
ENST00000579314.5:c.425C>T	ENSP00000462599.1:p.Thr142Ile
ENST00000579726.5:c.709C>T
ENST00000582005.5:c.*67C>T	ENSP00000462002.1:n.*67C>T
NM_000789.3:c.2147C>T	NP_000780.1:p.Thr716Ile
NM_001178057.1:c.425C>T	NP_001171528.1:p.Thr142Ile
NM_152830.2:c.425C>T	NP_690043.1:p.Thr142Ile
XM_005257110.1:c.1598C>T	XP_005257167.1:p.Thr533Ile
XM_006721737.2:c.485C>T	XP_006721800.2:p.Thr162Ile
XM_006721737.3:c.485C>T	XP_006721800.2:p.Thr162Ile
NM_000789.4:c.2147C>T MANE Select	NP_000780.1:p.Thr716Ile
NM_001178057.2:c.425C>T	NP_001171528.1:p.Thr142Ile
NM_152830.3:c.425C>T	NP_690043.1:p.Thr142Ile
NM_001382700.1:c.1580C>T	NP_001369629.1:p.Thr527Ile
NM_001382701.1:c.1295C>T	NP_001369630.1:p.Thr432Ile
NM_001382702.1:c.77C>T	NP_001369631.1:p.Thr26Ile
NR_168483.1:n.447C>T