Canonical Allele Identifier: CA400568264

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574498C>G (hg19) ; chr17:g.63497137C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497137C>G , CM000679.2:g.63497137C>G	GRCh38
NC_000017.10:g.61574498C>G , CM000679.1:g.61574498C>G	GRCh37
NC_000017.9:g.58928230C>G	NCBI36
NG_011648.1:g.25065C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3692C>G MANE Select	ENSP00000290866.4:p.Ala1231Gly
ENST00000290863.10:c.1970C>G	ENSP00000290863.6:p.Ala657Gly
ENST00000290866.9:c.3692C>G	ENSP00000290866.4:p.Ala1231Gly
ENST00000413513.7:c.1847C>G	ENSP00000392247.3:p.Ala616Gly
ENST00000428043.5:c.*114C>G	ENSP00000397593.2:n.*114C>G
ENST00000577418.5:n.702C>G
ENST00000577647.2:c.1969+152C>G	ENSP00000464149.1:n.1969+152C>G
ENST00000578839.5:c.*1447C>G	ENSP00000462110.2:n.*1447C>G
ENST00000579314.5:c.*1421C>G	ENSP00000462599.1:n.*1421C>G
ENST00000579409.1:c.530C>G
NM_000789.3:c.3692C>G	NP_000780.1:p.Ala1231Gly
NM_001178057.1:c.1847C>G	NP_001171528.1:p.Ala616Gly
NM_152830.2:c.1970C>G	NP_690043.1:p.Ala657Gly
XM_005257110.1:c.3143C>G	XP_005257167.1:p.Ala1048Gly
XM_006721737.2:c.2030C>G	XP_006721800.2:p.Ala677Gly
XM_006721737.3:c.2030C>G	XP_006721800.2:p.Ala677Gly
NM_000789.4:c.3692C>G MANE Select	NP_000780.1:p.Ala1231Gly
NM_001178057.2:c.1847C>G	NP_001171528.1:p.Ala616Gly
NM_152830.3:c.1970C>G	NP_690043.1:p.Ala657Gly
NM_001382700.1:c.3125C>G	NP_001369629.1:p.Ala1042Gly
NM_001382701.1:c.2840C>G	NP_001369630.1:p.Ala947Gly
NM_001382702.1:c.1307C>G	NP_001369631.1:p.Ala436Gly
NR_168483.1:n.2070C>G