Canonical Allele Identifier: CA501185355

Gene: ACE

Linked Data

• gnomAD v4: 17-63487018-C-G
• MyVariant Identifiers: chr17:g.61564379C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487018C>G , CM000679.2:g.63487018C>G	GRCh38
NC_000017.10:g.61564379C>G , CM000679.1:g.61564379C>G	GRCh37
NC_000017.9:g.58918111C>G	NCBI36
NG_011648.1:g.14946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2250C>G MANE Select	ENSP00000290866.4:p.Thr750=
ENST00000290863.10:c.528C>G	ENSP00000290863.6:p.Thr176=
ENST00000290866.9:c.2250C>G	ENSP00000290866.4:p.Thr750=
ENST00000413513.7:c.528C>G	ENSP00000392247.3:p.Thr176=
ENST00000428043.5:c.2250C>G	ENSP00000397593.2:p.Thr750=
ENST00000577647.2:c.528C>G	ENSP00000464149.1:p.Thr176=
ENST00000578839.5:c.*320C>G	ENSP00000462110.2:n.*320C>G
ENST00000579204.1:c.431C>G	ENSP00000464629.1:n.431C>G
ENST00000579314.5:c.528C>G	ENSP00000462599.1:p.Thr176=
ENST00000579726.5:c.812C>G
ENST00000582005.5:c.*170C>G	ENSP00000462002.1:n.*170C>G
ENST00000582761.1:c.18C>G	ENSP00000462909.1:p.Thr6=
ENST00000584865.5:n.196C>G
NM_000789.3:c.2250C>G	NP_000780.1:p.Thr750=
NM_001178057.1:c.528C>G	NP_001171528.1:p.Thr176=
NM_152830.2:c.528C>G	NP_690043.1:p.Thr176=
XM_005257110.1:c.1701C>G	XP_005257167.1:p.Thr567=
XM_006721737.2:c.588C>G	XP_006721800.2:p.Thr196=
XM_006721737.3:c.588C>G	XP_006721800.2:p.Thr196=
NM_000789.4:c.2250C>G MANE Select	NP_000780.1:p.Thr750=
NM_001178057.2:c.528C>G	NP_001171528.1:p.Thr176=
NM_152830.3:c.528C>G	NP_690043.1:p.Thr176=
NM_001382700.1:c.1683C>G	NP_001369629.1:p.Thr561=
NM_001382701.1:c.1398C>G	NP_001369630.1:p.Thr466=
NM_001382702.1:c.180C>G	NP_001369631.1:p.Thr60=
NR_168483.1:n.550C>G