Canonical Allele Identifier: CA501342368

Gene: ACE

Linked Data

• gnomAD v4: 17-63497243-C-A
• MyVariant Identifiers: chr17:g.61574604C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497243C>A , CM000679.2:g.63497243C>A	GRCh38
NC_000017.10:g.61574604C>A , CM000679.1:g.61574604C>A	GRCh37
NC_000017.9:g.58928336C>A	NCBI36
NG_011648.1:g.25171C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3798C>A MANE Select	ENSP00000290866.4:p.Gly1266=
ENST00000290863.10:c.2076C>A	ENSP00000290863.6:p.Gly692=
ENST00000290866.9:c.3798C>A	ENSP00000290866.4:p.Gly1266=
ENST00000413513.7:c.1953C>A	ENSP00000392247.3:p.Gly651=
ENST00000428043.5:c.*220C>A	ENSP00000397593.2:n.*220C>A
ENST00000577647.2:c.1969+258C>A	ENSP00000464149.1:n.1969+258C>A
ENST00000578839.5:c.*1553C>A	ENSP00000462110.2:n.*1553C>A
ENST00000579314.5:c.*1527C>A	ENSP00000462599.1:n.*1527C>A
NM_000789.3:c.3798C>A	NP_000780.1:p.Gly1266=
NM_001178057.1:c.1953C>A	NP_001171528.1:p.Gly651=
NM_152830.2:c.2076C>A	NP_690043.1:p.Gly692=
XM_005257110.1:c.3249C>A	XP_005257167.1:p.Gly1083=
XM_006721737.2:c.2136C>A	XP_006721800.2:p.Gly712=
XM_006721737.3:c.2136C>A	XP_006721800.2:p.Gly712=
NM_000789.4:c.3798C>A MANE Select	NP_000780.1:p.Gly1266=
NM_001178057.2:c.1953C>A	NP_001171528.1:p.Gly651=
NM_152830.3:c.2076C>A	NP_690043.1:p.Gly692=
NM_001382700.1:c.3231C>A	NP_001369629.1:p.Gly1077=
NM_001382701.1:c.2946C>A	NP_001369630.1:p.Gly982=
NM_001382702.1:c.1413C>A	NP_001369631.1:p.Gly471=
NR_168483.1:n.2176C>A