Canonical Allele Identifier: CA400569047

Gene: ACE

Linked Data

• gnomAD v4: 17-63497265-C-G
• MyVariant Identifiers: chr17:g.61574626C>G (hg19) ; chr17:g.63497265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497265C>G , CM000679.2:g.63497265C>G	GRCh38
NC_000017.10:g.61574626C>G , CM000679.1:g.61574626C>G	GRCh37
NC_000017.9:g.58928358C>G	NCBI36
NG_011648.1:g.25193C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3820C>G MANE Select	ENSP00000290866.4:p.Leu1274Val
ENST00000290863.10:c.2098C>G	ENSP00000290863.6:p.Leu700Val
ENST00000290866.9:c.3820C>G	ENSP00000290866.4:p.Leu1274Val
ENST00000413513.7:c.1975C>G	ENSP00000392247.3:p.Leu659Val
ENST00000428043.5:c.*242C>G	ENSP00000397593.2:n.*242C>G
ENST00000577647.2:c.1969+280C>G	ENSP00000464149.1:n.1969+280C>G
ENST00000578839.5:c.*1575C>G	ENSP00000462110.2:n.*1575C>G
ENST00000579314.5:c.*1549C>G	ENSP00000462599.1:n.*1549C>G
NM_000789.3:c.3820C>G	NP_000780.1:p.Leu1274Val
NM_001178057.1:c.1975C>G	NP_001171528.1:p.Leu659Val
NM_152830.2:c.2098C>G	NP_690043.1:p.Leu700Val
XM_005257110.1:c.3271C>G	XP_005257167.1:p.Leu1091Val
XM_006721737.2:c.2158C>G	XP_006721800.2:p.Leu720Val
XM_006721737.3:c.2158C>G	XP_006721800.2:p.Leu720Val
NM_000789.4:c.3820C>G MANE Select	NP_000780.1:p.Leu1274Val
NM_001178057.2:c.1975C>G	NP_001171528.1:p.Leu659Val
NM_152830.3:c.2098C>G	NP_690043.1:p.Leu700Val
NM_001382700.1:c.3253C>G	NP_001369629.1:p.Leu1085Val
NM_001382701.1:c.2968C>G	NP_001369630.1:p.Leu990Val
NM_001382702.1:c.1435C>G	NP_001369631.1:p.Leu479Val
NR_168483.1:n.2198C>G