Canonical Allele Identifier: CA400555982

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563990C>G (hg19) ; chr17:g.63486629C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486629C>G , CM000679.2:g.63486629C>G	GRCh38
NC_000017.10:g.61563990C>G , CM000679.1:g.61563990C>G	GRCh37
NC_000017.9:g.58917722C>G	NCBI36
NG_011648.1:g.14557C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2131C>G MANE Select	ENSP00000290866.4:p.Gln711Glu
ENST00000290863.10:c.409C>G	ENSP00000290863.6:p.Gln137Glu
ENST00000290866.9:c.2131C>G	ENSP00000290866.4:p.Gln711Glu
ENST00000413513.7:c.409C>G	ENSP00000392247.3:p.Gln137Glu
ENST00000428043.5:c.2131C>G	ENSP00000397593.2:p.Gln711Glu
ENST00000577647.2:c.409C>G	ENSP00000464149.1:p.Gln137Glu
ENST00000578839.5:c.*201C>G	ENSP00000462110.2:n.*201C>G
ENST00000579204.1:c.312C>G	ENSP00000464629.1:n.312C>G
ENST00000579314.5:c.409C>G	ENSP00000462599.1:p.Gln137Glu
ENST00000579726.5:c.693C>G
ENST00000582005.5:c.*51C>G	ENSP00000462002.1:n.*51C>G
NM_000789.3:c.2131C>G	NP_000780.1:p.Gln711Glu
NM_001178057.1:c.409C>G	NP_001171528.1:p.Gln137Glu
NM_152830.2:c.409C>G	NP_690043.1:p.Gln137Glu
XM_005257110.1:c.1582C>G	XP_005257167.1:p.Gln528Glu
XM_006721737.2:c.469C>G	XP_006721800.2:p.Gln157Glu
XM_006721737.3:c.469C>G	XP_006721800.2:p.Gln157Glu
NM_000789.4:c.2131C>G MANE Select	NP_000780.1:p.Gln711Glu
NM_001178057.2:c.409C>G	NP_001171528.1:p.Gln137Glu
NM_152830.3:c.409C>G	NP_690043.1:p.Gln137Glu
NM_001382700.1:c.1564C>G	NP_001369629.1:p.Gln522Glu
NM_001382701.1:c.1279C>G	NP_001369630.1:p.Gln427Glu
NM_001382702.1:c.61C>G	NP_001369631.1:p.Gln21Glu
NR_168483.1:n.431C>G