Canonical Allele Identifier: CA8699953

Gene: ACE

Linked Data

• dbSNP Id: rs765802481
• ExAC: 17:61564040 A / G
• gnomAD v2: 17-61564040-A-G
• gnomAD v3: 17-63486679-A-G
• gnomAD v4: 17-63486679-A-G
• MyVariant Identifiers: chr17:g.61564040A>G (hg19) ; chr17:g.63486679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486679A>G , CM000679.2:g.63486679A>G	GRCh38
NC_000017.10:g.61564040A>G , CM000679.1:g.61564040A>G	GRCh37
NC_000017.9:g.58917772A>G	NCBI36
NG_011648.1:g.14607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2181A>G MANE Select	ENSP00000290866.4:p.Leu727=
ENST00000290863.10:c.459A>G	ENSP00000290863.6:p.Leu153=
ENST00000290866.9:c.2181A>G	ENSP00000290866.4:p.Leu727=
ENST00000413513.7:c.459A>G	ENSP00000392247.3:p.Leu153=
ENST00000428043.5:c.2181A>G	ENSP00000397593.2:p.Leu727=
ENST00000577647.2:c.459A>G	ENSP00000464149.1:p.Leu153=
ENST00000578839.5:c.*251A>G	ENSP00000462110.2:n.*251A>G
ENST00000579204.1:c.362A>G	ENSP00000464629.1:n.362A>G
ENST00000579314.5:c.459A>G	ENSP00000462599.1:p.Leu153=
ENST00000579726.5:c.743A>G
ENST00000582005.5:c.*101A>G	ENSP00000462002.1:n.*101A>G
NM_000789.3:c.2181A>G	NP_000780.1:p.Leu727=
NM_001178057.1:c.459A>G	NP_001171528.1:p.Leu153=
NM_152830.2:c.459A>G	NP_690043.1:p.Leu153=
XM_005257110.1:c.1632A>G	XP_005257167.1:p.Leu544=
XM_006721737.2:c.519A>G	XP_006721800.2:p.Leu173=
XM_006721737.3:c.519A>G	XP_006721800.2:p.Leu173=
NM_000789.4:c.2181A>G MANE Select	NP_000780.1:p.Leu727=
NM_001178057.2:c.459A>G	NP_001171528.1:p.Leu153=
NM_152830.3:c.459A>G	NP_690043.1:p.Leu153=
NM_001382700.1:c.1614A>G	NP_001369629.1:p.Leu538=
NM_001382701.1:c.1329A>G	NP_001369630.1:p.Leu443=
NM_001382702.1:c.111A>G	NP_001369631.1:p.Leu37=
NR_168483.1:n.481A>G