Canonical Allele Identifier: CA501342491

Gene: ACE

Linked Data

• gnomAD v4: 17-63497309-C-T
• MyVariant Identifiers: chr17:g.61574670C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497309C>T , CM000679.2:g.63497309C>T	GRCh38
NC_000017.10:g.61574670C>T , CM000679.1:g.61574670C>T	GRCh37
NC_000017.9:g.58928402C>T	NCBI36
NG_011648.1:g.25237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3864C>T MANE Select	ENSP00000290866.4:p.Leu1288=
ENST00000290863.10:c.2142C>T	ENSP00000290863.6:p.Leu714=
ENST00000290866.9:c.3864C>T	ENSP00000290866.4:p.Leu1288=
ENST00000413513.7:c.2019C>T	ENSP00000392247.3:p.Leu673=
ENST00000428043.5:c.*286C>T	ENSP00000397593.2:n.*286C>T
ENST00000577647.2:c.1969+324C>T	ENSP00000464149.1:n.1969+324C>T
ENST00000578839.5:c.*1619C>T	ENSP00000462110.2:n.*1619C>T
ENST00000579314.5:c.*1593C>T	ENSP00000462599.1:n.*1593C>T
NM_000789.3:c.3864C>T	NP_000780.1:p.Leu1288=
NM_001178057.1:c.2019C>T	NP_001171528.1:p.Leu673=
NM_152830.2:c.2142C>T	NP_690043.1:p.Leu714=
XM_005257110.1:c.3315C>T	XP_005257167.1:p.Leu1105=
XM_006721737.2:c.2202C>T	XP_006721800.2:p.Leu734=
XM_006721737.3:c.2202C>T	XP_006721800.2:p.Leu734=
NM_000789.4:c.3864C>T MANE Select	NP_000780.1:p.Leu1288=
NM_001178057.2:c.2019C>T	NP_001171528.1:p.Leu673=
NM_152830.3:c.2142C>T	NP_690043.1:p.Leu714=
NM_001382700.1:c.3297C>T	NP_001369629.1:p.Leu1099=
NM_001382701.1:c.3012C>T	NP_001369630.1:p.Leu1004=
NM_001382702.1:c.1479C>T	NP_001369631.1:p.Leu493=
NR_168483.1:n.2242C>T