Canonical Allele Identifier: CA292890157

Gene: ACE

Linked Data

• dbSNP Id: rs757974064
• gnomAD v4: 17-63496938-A-G
• MyVariant Identifiers: chr17:g.61574299A>G (hg19) ; chr17:g.63496938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496938A>G , CM000679.2:g.63496938A>G	GRCh38
NC_000017.10:g.61574299A>G , CM000679.1:g.61574299A>G	GRCh37
NC_000017.9:g.58928031A>G	NCBI36
NG_011648.1:g.24866A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3644A>G MANE Select	ENSP00000290866.4:p.His1215Arg
ENST00000290863.10:c.1922A>G	ENSP00000290863.6:p.His641Arg
ENST00000290866.9:c.3644A>G	ENSP00000290866.4:p.His1215Arg
ENST00000413513.7:c.1799A>G	ENSP00000392247.3:p.His600Arg
ENST00000428043.5:c.3644A>G	ENSP00000397593.2:p.His1215Arg
ENST00000577418.5:n.654A>G
ENST00000577647.2:c.1922A>G	ENSP00000464149.1:p.His641Arg
ENST00000578839.5:c.*1399A>G	ENSP00000462110.2:n.*1399A>G
ENST00000579314.5:c.*1373A>G	ENSP00000462599.1:n.*1373A>G
ENST00000579409.1:c.331A>G
ENST00000582244.1:n.518A>G
NM_000789.3:c.3644A>G	NP_000780.1:p.His1215Arg
NM_001178057.1:c.1799A>G	NP_001171528.1:p.His600Arg
NM_152830.2:c.1922A>G	NP_690043.1:p.His641Arg
XM_005257110.1:c.3095A>G	XP_005257167.1:p.His1032Arg
XM_006721737.2:c.1982A>G	XP_006721800.2:p.His661Arg
XM_006721737.3:c.1982A>G	XP_006721800.2:p.His661Arg
NM_000789.4:c.3644A>G MANE Select	NP_000780.1:p.His1215Arg
NM_001178057.2:c.1799A>G	NP_001171528.1:p.His600Arg
NM_152830.3:c.1922A>G	NP_690043.1:p.His641Arg
NM_001382700.1:c.3077A>G	NP_001369629.1:p.His1026Arg
NM_001382701.1:c.2792A>G	NP_001369630.1:p.His931Arg
NM_001382702.1:c.1259A>G	NP_001369631.1:p.His420Arg
NR_168483.1:n.2022A>G