Canonical Allele Identifier: CA400569077

Gene: ACE

Linked Data

• gnomAD v4: 17-63497271-C-A
• MyVariant Identifiers: chr17:g.61574632C>A (hg19) ; chr17:g.63497271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497271C>A , CM000679.2:g.63497271C>A	GRCh38
NC_000017.10:g.61574632C>A , CM000679.1:g.61574632C>A	GRCh37
NC_000017.9:g.58928364C>A	NCBI36
NG_011648.1:g.25199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3826C>A MANE Select	ENSP00000290866.4:p.Leu1276Ile
ENST00000290863.10:c.2104C>A	ENSP00000290863.6:p.Leu702Ile
ENST00000290866.9:c.3826C>A	ENSP00000290866.4:p.Leu1276Ile
ENST00000413513.7:c.1981C>A	ENSP00000392247.3:p.Leu661Ile
ENST00000428043.5:c.*248C>A	ENSP00000397593.2:n.*248C>A
ENST00000577647.2:c.1969+286C>A	ENSP00000464149.1:n.1969+286C>A
ENST00000578839.5:c.*1581C>A	ENSP00000462110.2:n.*1581C>A
ENST00000579314.5:c.*1555C>A	ENSP00000462599.1:n.*1555C>A
NM_000789.3:c.3826C>A	NP_000780.1:p.Leu1276Ile
NM_001178057.1:c.1981C>A	NP_001171528.1:p.Leu661Ile
NM_152830.2:c.2104C>A	NP_690043.1:p.Leu702Ile
XM_005257110.1:c.3277C>A	XP_005257167.1:p.Leu1093Ile
XM_006721737.2:c.2164C>A	XP_006721800.2:p.Leu722Ile
XM_006721737.3:c.2164C>A	XP_006721800.2:p.Leu722Ile
NM_000789.4:c.3826C>A MANE Select	NP_000780.1:p.Leu1276Ile
NM_001178057.2:c.1981C>A	NP_001171528.1:p.Leu661Ile
NM_152830.3:c.2104C>A	NP_690043.1:p.Leu702Ile
NM_001382700.1:c.3259C>A	NP_001369629.1:p.Leu1087Ile
NM_001382701.1:c.2974C>A	NP_001369630.1:p.Leu992Ile
NM_001382702.1:c.1441C>A	NP_001369631.1:p.Leu481Ile
NR_168483.1:n.2204C>A