Canonical Allele Identifier: CA400568668

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574563C>G (hg19) ; chr17:g.63497202C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497202C>G , CM000679.2:g.63497202C>G	GRCh38
NC_000017.10:g.61574563C>G , CM000679.1:g.61574563C>G	GRCh37
NC_000017.9:g.58928295C>G	NCBI36
NG_011648.1:g.25130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3757C>G MANE Select	ENSP00000290866.4:p.Gln1253Glu
ENST00000290863.10:c.2035C>G	ENSP00000290863.6:p.Gln679Glu
ENST00000290866.9:c.3757C>G	ENSP00000290866.4:p.Gln1253Glu
ENST00000413513.7:c.1912C>G	ENSP00000392247.3:p.Gln638Glu
ENST00000428043.5:c.*179C>G	ENSP00000397593.2:n.*179C>G
ENST00000577647.2:c.1969+217C>G	ENSP00000464149.1:n.1969+217C>G
ENST00000578839.5:c.*1512C>G	ENSP00000462110.2:n.*1512C>G
ENST00000579314.5:c.*1486C>G	ENSP00000462599.1:n.*1486C>G
NM_000789.3:c.3757C>G	NP_000780.1:p.Gln1253Glu
NM_001178057.1:c.1912C>G	NP_001171528.1:p.Gln638Glu
NM_152830.2:c.2035C>G	NP_690043.1:p.Gln679Glu
XM_005257110.1:c.3208C>G	XP_005257167.1:p.Gln1070Glu
XM_006721737.2:c.2095C>G	XP_006721800.2:p.Gln699Glu
XM_006721737.3:c.2095C>G	XP_006721800.2:p.Gln699Glu
NM_000789.4:c.3757C>G MANE Select	NP_000780.1:p.Gln1253Glu
NM_001178057.2:c.1912C>G	NP_001171528.1:p.Gln638Glu
NM_152830.3:c.2035C>G	NP_690043.1:p.Gln679Glu
NM_001382700.1:c.3190C>G	NP_001369629.1:p.Gln1064Glu
NM_001382701.1:c.2905C>G	NP_001369630.1:p.Gln969Glu
NM_001382702.1:c.1372C>G	NP_001369631.1:p.Gln458Glu
NR_168483.1:n.2135C>G