Canonical Allele Identifier: CA400567604

Gene: ACE

Linked Data

• dbSNP Id: rs2030781426
• gnomAD v4: 17-63496940-G-A
• MyVariant Identifiers: chr17:g.61574301G>A (hg19) ; chr17:g.63496940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496940G>A , CM000679.2:g.63496940G>A	GRCh38
NC_000017.10:g.61574301G>A , CM000679.1:g.61574301G>A	GRCh37
NC_000017.9:g.58928033G>A	NCBI36
NG_011648.1:g.24868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3646G>A MANE Select	ENSP00000290866.4:p.Gly1216Arg
ENST00000290863.10:c.1924G>A	ENSP00000290863.6:p.Gly642Arg
ENST00000290866.9:c.3646G>A	ENSP00000290866.4:p.Gly1216Arg
ENST00000413513.7:c.1801G>A	ENSP00000392247.3:p.Gly601Arg
ENST00000428043.5:c.3646G>A	ENSP00000397593.2:p.Gly1216Arg
ENST00000577418.5:n.656G>A
ENST00000577647.2:c.1924G>A	ENSP00000464149.1:p.Gly642Arg
ENST00000578839.5:c.*1401G>A	ENSP00000462110.2:n.*1401G>A
ENST00000579314.5:c.*1375G>A	ENSP00000462599.1:n.*1375G>A
ENST00000579409.1:c.333G>A
ENST00000582244.1:n.520G>A
NM_000789.3:c.3646G>A	NP_000780.1:p.Gly1216Arg
NM_001178057.1:c.1801G>A	NP_001171528.1:p.Gly601Arg
NM_152830.2:c.1924G>A	NP_690043.1:p.Gly642Arg
XM_005257110.1:c.3097G>A	XP_005257167.1:p.Gly1033Arg
XM_006721737.2:c.1984G>A	XP_006721800.2:p.Gly662Arg
XM_006721737.3:c.1984G>A	XP_006721800.2:p.Gly662Arg
NM_000789.4:c.3646G>A MANE Select	NP_000780.1:p.Gly1216Arg
NM_001178057.2:c.1801G>A	NP_001171528.1:p.Gly601Arg
NM_152830.3:c.1924G>A	NP_690043.1:p.Gly642Arg
NM_001382700.1:c.3079G>A	NP_001369629.1:p.Gly1027Arg
NM_001382701.1:c.2794G>A	NP_001369630.1:p.Gly932Arg
NM_001382702.1:c.1261G>A	NP_001369631.1:p.Gly421Arg
NR_168483.1:n.2024G>A