Canonical Allele Identifier: CA501342268

Gene: ACE

Linked Data

• gnomAD v4: 17-63497156-C-G
• MyVariant Identifiers: chr17:g.61574517C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497156C>G , CM000679.2:g.63497156C>G	GRCh38
NC_000017.10:g.61574517C>G , CM000679.1:g.61574517C>G	GRCh37
NC_000017.9:g.58928249C>G	NCBI36
NG_011648.1:g.25084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3711C>G MANE Select	ENSP00000290866.4:p.Leu1237=
ENST00000290863.10:c.1989C>G	ENSP00000290863.6:p.Leu663=
ENST00000290866.9:c.3711C>G	ENSP00000290866.4:p.Leu1237=
ENST00000413513.7:c.1866C>G	ENSP00000392247.3:p.Leu622=
ENST00000428043.5:c.*133C>G	ENSP00000397593.2:n.*133C>G
ENST00000577418.5:n.721C>G
ENST00000577647.2:c.1969+171C>G	ENSP00000464149.1:n.1969+171C>G
ENST00000578839.5:c.*1466C>G	ENSP00000462110.2:n.*1466C>G
ENST00000579314.5:c.*1440C>G	ENSP00000462599.1:n.*1440C>G
NM_000789.3:c.3711C>G	NP_000780.1:p.Leu1237=
NM_001178057.1:c.1866C>G	NP_001171528.1:p.Leu622=
NM_152830.2:c.1989C>G	NP_690043.1:p.Leu663=
XM_005257110.1:c.3162C>G	XP_005257167.1:p.Leu1054=
XM_006721737.2:c.2049C>G	XP_006721800.2:p.Leu683=
XM_006721737.3:c.2049C>G	XP_006721800.2:p.Leu683=
NM_000789.4:c.3711C>G MANE Select	NP_000780.1:p.Leu1237=
NM_001178057.2:c.1866C>G	NP_001171528.1:p.Leu622=
NM_152830.3:c.1989C>G	NP_690043.1:p.Leu663=
NM_001382700.1:c.3144C>G	NP_001369629.1:p.Leu1048=
NM_001382701.1:c.2859C>G	NP_001369630.1:p.Leu953=
NM_001382702.1:c.1326C>G	NP_001369631.1:p.Leu442=
NR_168483.1:n.2089C>G