Canonical Allele Identifier: CA400567476

Gene: ACE

Linked Data

• dbSNP Id: rs1353694784
• gnomAD v3: 17-63496919-C-G
• gnomAD v4: 17-63496919-C-G
• MyVariant Identifiers: chr17:g.61574280C>G (hg19) ; chr17:g.63496919C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496919C>G , CM000679.2:g.63496919C>G	GRCh38
NC_000017.10:g.61574280C>G , CM000679.1:g.61574280C>G	GRCh37
NC_000017.9:g.58928012C>G	NCBI36
NG_011648.1:g.24847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3625C>G MANE Select	ENSP00000290866.4:p.Arg1209Gly
ENST00000290863.10:c.1903C>G	ENSP00000290863.6:p.Arg635Gly
ENST00000290866.9:c.3625C>G	ENSP00000290866.4:p.Arg1209Gly
ENST00000413513.7:c.1780C>G	ENSP00000392247.3:p.Arg594Gly
ENST00000428043.5:c.3625C>G	ENSP00000397593.2:p.Arg1209Gly
ENST00000577418.5:n.635C>G
ENST00000577647.2:c.1903C>G	ENSP00000464149.1:p.Arg635Gly
ENST00000578839.5:c.*1380C>G	ENSP00000462110.2:n.*1380C>G
ENST00000579314.5:c.*1354C>G	ENSP00000462599.1:n.*1354C>G
ENST00000579409.1:c.312C>G
ENST00000582244.1:n.499C>G
NM_000789.3:c.3625C>G	NP_000780.1:p.Arg1209Gly
NM_001178057.1:c.1780C>G	NP_001171528.1:p.Arg594Gly
NM_152830.2:c.1903C>G	NP_690043.1:p.Arg635Gly
XM_005257110.1:c.3076C>G	XP_005257167.1:p.Arg1026Gly
XM_006721737.2:c.1963C>G	XP_006721800.2:p.Arg655Gly
XM_006721737.3:c.1963C>G	XP_006721800.2:p.Arg655Gly
NM_000789.4:c.3625C>G MANE Select	NP_000780.1:p.Arg1209Gly
NM_001178057.2:c.1780C>G	NP_001171528.1:p.Arg594Gly
NM_152830.3:c.1903C>G	NP_690043.1:p.Arg635Gly
NM_001382700.1:c.3058C>G	NP_001369629.1:p.Arg1020Gly
NM_001382701.1:c.2773C>G	NP_001369630.1:p.Arg925Gly
NM_001382702.1:c.1240C>G	NP_001369631.1:p.Arg414Gly
NR_168483.1:n.2003C>G