Canonical Allele Identifier: CA400567744

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574322C>G (hg19) ; chr17:g.63496961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496961C>G , CM000679.2:g.63496961C>G	GRCh38
NC_000017.10:g.61574322C>G , CM000679.1:g.61574322C>G	GRCh37
NC_000017.9:g.58928054C>G	NCBI36
NG_011648.1:g.24889C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3667C>G MANE Select	ENSP00000290866.4:p.Gln1223Glu
ENST00000290863.10:c.1945C>G	ENSP00000290863.6:p.Gln649Glu
ENST00000290866.9:c.3667C>G	ENSP00000290866.4:p.Gln1223Glu
ENST00000413513.7:c.1822C>G	ENSP00000392247.3:p.Gln608Glu
ENST00000428043.5:c.3667C>G	ENSP00000397593.2:p.Gln1223Glu
ENST00000577418.5:n.677C>G
ENST00000577647.2:c.1945C>G	ENSP00000464149.1:p.Gln649Glu
ENST00000578839.5:c.*1422C>G	ENSP00000462110.2:n.*1422C>G
ENST00000579314.5:c.*1396C>G	ENSP00000462599.1:n.*1396C>G
ENST00000579409.1:c.354C>G
ENST00000582244.1:n.541C>G
NM_000789.3:c.3667C>G	NP_000780.1:p.Gln1223Glu
NM_001178057.1:c.1822C>G	NP_001171528.1:p.Gln608Glu
NM_152830.2:c.1945C>G	NP_690043.1:p.Gln649Glu
XM_005257110.1:c.3118C>G	XP_005257167.1:p.Gln1040Glu
XM_006721737.2:c.2005C>G	XP_006721800.2:p.Gln669Glu
XM_006721737.3:c.2005C>G	XP_006721800.2:p.Gln669Glu
NM_000789.4:c.3667C>G MANE Select	NP_000780.1:p.Gln1223Glu
NM_001178057.2:c.1822C>G	NP_001171528.1:p.Gln608Glu
NM_152830.3:c.1945C>G	NP_690043.1:p.Gln649Glu
NM_001382700.1:c.3100C>G	NP_001369629.1:p.Gln1034Glu
NM_001382701.1:c.2815C>G	NP_001369630.1:p.Gln939Glu
NM_001382702.1:c.1282C>G	NP_001369631.1:p.Gln428Glu
NR_168483.1:n.2045C>G