Canonical Allele Identifier: CA501342383

Gene: ACE

Linked Data

• gnomAD v4: 17-63497255-G-T
• MyVariant Identifiers: chr17:g.61574616G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497255G>T , CM000679.2:g.63497255G>T	GRCh38
NC_000017.10:g.61574616G>T , CM000679.1:g.61574616G>T	GRCh37
NC_000017.9:g.58928348G>T	NCBI36
NG_011648.1:g.25183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3810G>T MANE Select	ENSP00000290866.4:p.Leu1270=
ENST00000290863.10:c.2088G>T	ENSP00000290863.6:p.Leu696=
ENST00000290866.9:c.3810G>T	ENSP00000290866.4:p.Leu1270=
ENST00000413513.7:c.1965G>T	ENSP00000392247.3:p.Leu655=
ENST00000428043.5:c.*232G>T	ENSP00000397593.2:n.*232G>T
ENST00000577647.2:c.1969+270G>T	ENSP00000464149.1:n.1969+270G>T
ENST00000578839.5:c.*1565G>T	ENSP00000462110.2:n.*1565G>T
ENST00000579314.5:c.*1539G>T	ENSP00000462599.1:n.*1539G>T
NM_000789.3:c.3810G>T	NP_000780.1:p.Leu1270=
NM_001178057.1:c.1965G>T	NP_001171528.1:p.Leu655=
NM_152830.2:c.2088G>T	NP_690043.1:p.Leu696=
XM_005257110.1:c.3261G>T	XP_005257167.1:p.Leu1087=
XM_006721737.2:c.2148G>T	XP_006721800.2:p.Leu716=
XM_006721737.3:c.2148G>T	XP_006721800.2:p.Leu716=
NM_000789.4:c.3810G>T MANE Select	NP_000780.1:p.Leu1270=
NM_001178057.2:c.1965G>T	NP_001171528.1:p.Leu655=
NM_152830.3:c.2088G>T	NP_690043.1:p.Leu696=
NM_001382700.1:c.3243G>T	NP_001369629.1:p.Leu1081=
NM_001382701.1:c.2958G>T	NP_001369630.1:p.Leu986=
NM_001382702.1:c.1425G>T	NP_001369631.1:p.Leu475=
NR_168483.1:n.2188G>T