Canonical Allele Identifier: CA292890467

Gene: ACE

Linked Data

• dbSNP Id: rs1004296792
• gnomAD v4: 17-63497311-A-G
• MyVariant Identifiers: chr17:g.61574672A>G (hg19) ; chr17:g.63497311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497311A>G , CM000679.2:g.63497311A>G	GRCh38
NC_000017.10:g.61574672A>G , CM000679.1:g.61574672A>G	GRCh37
NC_000017.9:g.58928404A>G	NCBI36
NG_011648.1:g.25239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3866A>G MANE Select	ENSP00000290866.4:p.His1289Arg
ENST00000290863.10:c.2144A>G	ENSP00000290863.6:p.His715Arg
ENST00000290866.9:c.3866A>G	ENSP00000290866.4:p.His1289Arg
ENST00000413513.7:c.2021A>G	ENSP00000392247.3:p.His674Arg
ENST00000428043.5:c.*288A>G	ENSP00000397593.2:n.*288A>G
ENST00000577647.2:c.1969+326A>G	ENSP00000464149.1:n.1969+326A>G
ENST00000578839.5:c.*1621A>G	ENSP00000462110.2:n.*1621A>G
ENST00000579314.5:c.*1595A>G	ENSP00000462599.1:n.*1595A>G
NM_000789.3:c.3866A>G	NP_000780.1:p.His1289Arg
NM_001178057.1:c.2021A>G	NP_001171528.1:p.His674Arg
NM_152830.2:c.2144A>G	NP_690043.1:p.His715Arg
XM_005257110.1:c.3317A>G	XP_005257167.1:p.His1106Arg
XM_006721737.2:c.2204A>G	XP_006721800.2:p.His735Arg
XM_006721737.3:c.2204A>G	XP_006721800.2:p.His735Arg
NM_000789.4:c.3866A>G MANE Select	NP_000780.1:p.His1289Arg
NM_001178057.2:c.2021A>G	NP_001171528.1:p.His674Arg
NM_152830.3:c.2144A>G	NP_690043.1:p.His715Arg
NM_001382700.1:c.3299A>G	NP_001369629.1:p.His1100Arg
NM_001382701.1:c.3014A>G	NP_001369630.1:p.His1005Arg
NM_001382702.1:c.1481A>G	NP_001369631.1:p.His494Arg
NR_168483.1:n.2244A>G