Canonical Allele Identifier: CA501342250

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574499T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497138T>G , CM000679.2:g.63497138T>G	GRCh38
NC_000017.10:g.61574499T>G , CM000679.1:g.61574499T>G	GRCh37
NC_000017.9:g.58928231T>G	NCBI36
NG_011648.1:g.25066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3693T>G MANE Select	ENSP00000290866.4:p.Ala1231=
ENST00000290863.10:c.1971T>G	ENSP00000290863.6:p.Ala657=
ENST00000290866.9:c.3693T>G	ENSP00000290866.4:p.Ala1231=
ENST00000413513.7:c.1848T>G	ENSP00000392247.3:p.Ala616=
ENST00000428043.5:c.*115T>G	ENSP00000397593.2:n.*115T>G
ENST00000577418.5:n.703T>G
ENST00000577647.2:c.1969+153T>G	ENSP00000464149.1:n.1969+153T>G
ENST00000578839.5:c.*1448T>G	ENSP00000462110.2:n.*1448T>G
ENST00000579314.5:c.*1422T>G	ENSP00000462599.1:n.*1422T>G
ENST00000579409.1:c.531T>G
NM_000789.3:c.3693T>G	NP_000780.1:p.Ala1231=
NM_001178057.1:c.1848T>G	NP_001171528.1:p.Ala616=
NM_152830.2:c.1971T>G	NP_690043.1:p.Ala657=
XM_005257110.1:c.3144T>G	XP_005257167.1:p.Ala1048=
XM_006721737.2:c.2031T>G	XP_006721800.2:p.Ala677=
XM_006721737.3:c.2031T>G	XP_006721800.2:p.Ala677=
NM_000789.4:c.3693T>G MANE Select	NP_000780.1:p.Ala1231=
NM_001178057.2:c.1848T>G	NP_001171528.1:p.Ala616=
NM_152830.3:c.1971T>G	NP_690043.1:p.Ala657=
NM_001382700.1:c.3126T>G	NP_001369629.1:p.Ala1042=
NM_001382701.1:c.2841T>G	NP_001369630.1:p.Ala947=
NM_001382702.1:c.1308T>G	NP_001369631.1:p.Ala436=
NR_168483.1:n.2071T>G