Canonical Allele Identifier: CA501342349

Gene: ACE

Linked Data

• gnomAD v4: 17-63497229-C-T
• MyVariant Identifiers: chr17:g.61574590C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497229C>T , CM000679.2:g.63497229C>T	GRCh38
NC_000017.10:g.61574590C>T , CM000679.1:g.61574590C>T	GRCh37
NC_000017.9:g.58928322C>T	NCBI36
NG_011648.1:g.25157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3784C>T MANE Select	ENSP00000290866.4:p.Leu1262=
ENST00000290863.10:c.2062C>T	ENSP00000290863.6:p.Leu688=
ENST00000290866.9:c.3784C>T	ENSP00000290866.4:p.Leu1262=
ENST00000413513.7:c.1939C>T	ENSP00000392247.3:p.Leu647=
ENST00000428043.5:c.*206C>T	ENSP00000397593.2:n.*206C>T
ENST00000577647.2:c.1969+244C>T	ENSP00000464149.1:n.1969+244C>T
ENST00000578839.5:c.*1539C>T	ENSP00000462110.2:n.*1539C>T
ENST00000579314.5:c.*1513C>T	ENSP00000462599.1:n.*1513C>T
NM_000789.3:c.3784C>T	NP_000780.1:p.Leu1262=
NM_001178057.1:c.1939C>T	NP_001171528.1:p.Leu647=
NM_152830.2:c.2062C>T	NP_690043.1:p.Leu688=
XM_005257110.1:c.3235C>T	XP_005257167.1:p.Leu1079=
XM_006721737.2:c.2122C>T	XP_006721800.2:p.Leu708=
XM_006721737.3:c.2122C>T	XP_006721800.2:p.Leu708=
NM_000789.4:c.3784C>T MANE Select	NP_000780.1:p.Leu1262=
NM_001178057.2:c.1939C>T	NP_001171528.1:p.Leu647=
NM_152830.3:c.2062C>T	NP_690043.1:p.Leu688=
NM_001382700.1:c.3217C>T	NP_001369629.1:p.Leu1073=
NM_001382701.1:c.2932C>T	NP_001369630.1:p.Leu978=
NM_001382702.1:c.1399C>T	NP_001369631.1:p.Leu467=
NR_168483.1:n.2162C>T