Canonical Allele Identifier: CA400569232

Gene: ACE

Linked Data

• dbSNP Id: rs1268051765
• gnomAD v3: 17-63497292-A-G
• gnomAD v4: 17-63497292-A-G
• MyVariant Identifiers: chr17:g.61574653A>G (hg19) ; chr17:g.63497292A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497292A>G , CM000679.2:g.63497292A>G	GRCh38
NC_000017.10:g.61574653A>G , CM000679.1:g.61574653A>G	GRCh37
NC_000017.9:g.58928385A>G	NCBI36
NG_011648.1:g.25220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3847A>G MANE Select	ENSP00000290866.4:p.Ile1283Val
ENST00000290863.10:c.2125A>G	ENSP00000290863.6:p.Ile709Val
ENST00000290866.9:c.3847A>G	ENSP00000290866.4:p.Ile1283Val
ENST00000413513.7:c.2002A>G	ENSP00000392247.3:p.Ile668Val
ENST00000428043.5:c.*269A>G	ENSP00000397593.2:n.*269A>G
ENST00000577647.2:c.1969+307A>G	ENSP00000464149.1:n.1969+307A>G
ENST00000578839.5:c.*1602A>G	ENSP00000462110.2:n.*1602A>G
ENST00000579314.5:c.*1576A>G	ENSP00000462599.1:n.*1576A>G
NM_000789.3:c.3847A>G	NP_000780.1:p.Ile1283Val
NM_001178057.1:c.2002A>G	NP_001171528.1:p.Ile668Val
NM_152830.2:c.2125A>G	NP_690043.1:p.Ile709Val
XM_005257110.1:c.3298A>G	XP_005257167.1:p.Ile1100Val
XM_006721737.2:c.2185A>G	XP_006721800.2:p.Ile729Val
XM_006721737.3:c.2185A>G	XP_006721800.2:p.Ile729Val
NM_000789.4:c.3847A>G MANE Select	NP_000780.1:p.Ile1283Val
NM_001178057.2:c.2002A>G	NP_001171528.1:p.Ile668Val
NM_152830.3:c.2125A>G	NP_690043.1:p.Ile709Val
NM_001382700.1:c.3280A>G	NP_001369629.1:p.Ile1094Val
NM_001382701.1:c.2995A>G	NP_001369630.1:p.Ile999Val
NM_001382702.1:c.1462A>G	NP_001369631.1:p.Ile488Val
NR_168483.1:n.2225A>G