Canonical Allele Identifier: CA501342516

Gene: ACE

Linked Data

• gnomAD v4: 17-63497327-G-T
• MyVariant Identifiers: chr17:g.61574688G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497327G>T , CM000679.2:g.63497327G>T	GRCh38
NC_000017.10:g.61574688G>T , CM000679.1:g.61574688G>T	GRCh37
NC_000017.9:g.58928420G>T	NCBI36
NG_011648.1:g.25255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3882G>T MANE Select	ENSP00000290866.4:p.Gly1294=
ENST00000290863.10:c.2160G>T	ENSP00000290863.6:p.Gly720=
ENST00000290866.9:c.3882G>T	ENSP00000290866.4:p.Gly1294=
ENST00000413513.7:c.2037G>T	ENSP00000392247.3:p.Gly679=
ENST00000428043.5:c.*304G>T	ENSP00000397593.2:n.*304G>T
ENST00000577647.2:c.1969+342G>T	ENSP00000464149.1:n.1969+342G>T
ENST00000578839.5:c.*1637G>T	ENSP00000462110.2:n.*1637G>T
ENST00000579314.5:c.*1611G>T	ENSP00000462599.1:n.*1611G>T
NM_000789.3:c.3882G>T	NP_000780.1:p.Gly1294=
NM_001178057.1:c.2037G>T	NP_001171528.1:p.Gly679=
NM_152830.2:c.2160G>T	NP_690043.1:p.Gly720=
XM_005257110.1:c.3333G>T	XP_005257167.1:p.Gly1111=
XM_006721737.2:c.2220G>T	XP_006721800.2:p.Gly740=
XM_006721737.3:c.2220G>T	XP_006721800.2:p.Gly740=
NM_000789.4:c.3882G>T MANE Select	NP_000780.1:p.Gly1294=
NM_001178057.2:c.2037G>T	NP_001171528.1:p.Gly679=
NM_152830.3:c.2160G>T	NP_690043.1:p.Gly720=
NM_001382700.1:c.3315G>T	NP_001369629.1:p.Gly1105=
NM_001382701.1:c.3030G>T	NP_001369630.1:p.Gly1010=
NM_001382702.1:c.1497G>T	NP_001369631.1:p.Gly499=
NR_168483.1:n.2260G>T