Canonical Allele Identifier: CA400558057

Gene: ACE

Linked Data

• dbSNP Id: rs1255043434
• gnomAD v3: 17-63488774-A-G
• gnomAD v4: 17-63488774-A-G
• MyVariant Identifiers: chr17:g.61566135A>G (hg19) ; chr17:g.63488774A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488774A>G , CM000679.2:g.63488774A>G	GRCh38
NC_000017.10:g.61566135A>G , CM000679.1:g.61566135A>G	GRCh37
NC_000017.9:g.58919867A>G	NCBI36
NG_011648.1:g.16702A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2432A>G MANE Select	ENSP00000290866.4:p.Gln811Arg
ENST00000290863.10:c.710A>G	ENSP00000290863.6:p.Gln237Arg
ENST00000290866.9:c.2432A>G	ENSP00000290866.4:p.Gln811Arg
ENST00000413513.7:c.710A>G	ENSP00000392247.3:p.Gln237Arg
ENST00000428043.5:c.2432A>G	ENSP00000397593.2:p.Gln811Arg
ENST00000577647.2:c.710A>G	ENSP00000464149.1:p.Gln237Arg
ENST00000578839.5:c.*502A>G	ENSP00000462110.2:n.*502A>G
ENST00000579204.1:c.691A>G	ENSP00000464629.1:n.691A>G
ENST00000579314.5:c.*161A>G	ENSP00000462599.1:n.*161A>G
ENST00000582005.5:c.*352A>G	ENSP00000462002.1:n.*352A>G
ENST00000582761.1:c.200A>G	ENSP00000462909.1:p.Gln67Arg
ENST00000584865.5:n.378A>G
NM_000789.3:c.2432A>G	NP_000780.1:p.Gln811Arg
NM_001178057.1:c.710A>G	NP_001171528.1:p.Gln237Arg
NM_152830.2:c.710A>G	NP_690043.1:p.Gln237Arg
XM_005257110.1:c.1883A>G	XP_005257167.1:p.Gln628Arg
XM_006721737.2:c.770A>G	XP_006721800.2:p.Gln257Arg
XM_006721737.3:c.770A>G	XP_006721800.2:p.Gln257Arg
NM_000789.4:c.2432A>G MANE Select	NP_000780.1:p.Gln811Arg
NM_001178057.2:c.710A>G	NP_001171528.1:p.Gln237Arg
NM_152830.3:c.710A>G	NP_690043.1:p.Gln237Arg
NM_001382700.1:c.1865A>G	NP_001369629.1:p.Gln622Arg
NM_001382701.1:c.1580A>G	NP_001369630.1:p.Gln527Arg
NM_001382702.1:c.362A>G	NP_001369631.1:p.Gln121Arg
NR_168483.1:n.810A>G