Canonical Allele Identifier: CA400569496

Gene: ACE

Linked Data

• gnomAD v4: 17-63497318-C-G
• MyVariant Identifiers: chr17:g.61574679C>G (hg19) ; chr17:g.63497318C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497318C>G , CM000679.2:g.63497318C>G	GRCh38
NC_000017.10:g.61574679C>G , CM000679.1:g.61574679C>G	GRCh37
NC_000017.9:g.58928411C>G	NCBI36
NG_011648.1:g.25246C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3873C>G MANE Select	ENSP00000290866.4:p.His1291Gln
ENST00000290863.10:c.2151C>G	ENSP00000290863.6:p.His717Gln
ENST00000290866.9:c.3873C>G	ENSP00000290866.4:p.His1291Gln
ENST00000413513.7:c.2028C>G	ENSP00000392247.3:p.His676Gln
ENST00000428043.5:c.*295C>G	ENSP00000397593.2:n.*295C>G
ENST00000577647.2:c.1969+333C>G	ENSP00000464149.1:n.1969+333C>G
ENST00000578839.5:c.*1628C>G	ENSP00000462110.2:n.*1628C>G
ENST00000579314.5:c.*1602C>G	ENSP00000462599.1:n.*1602C>G
NM_000789.3:c.3873C>G	NP_000780.1:p.His1291Gln
NM_001178057.1:c.2028C>G	NP_001171528.1:p.His676Gln
NM_152830.2:c.2151C>G	NP_690043.1:p.His717Gln
XM_005257110.1:c.3324C>G	XP_005257167.1:p.His1108Gln
XM_006721737.2:c.2211C>G	XP_006721800.2:p.His737Gln
XM_006721737.3:c.2211C>G	XP_006721800.2:p.His737Gln
NM_000789.4:c.3873C>G MANE Select	NP_000780.1:p.His1291Gln
NM_001178057.2:c.2028C>G	NP_001171528.1:p.His676Gln
NM_152830.3:c.2151C>G	NP_690043.1:p.His717Gln
NM_001382700.1:c.3306C>G	NP_001369629.1:p.His1102Gln
NM_001382701.1:c.3021C>G	NP_001369630.1:p.His1007Gln
NM_001382702.1:c.1488C>G	NP_001369631.1:p.His496Gln
NR_168483.1:n.2251C>G