Canonical Allele Identifier: CA400567619

Gene: ACE

Linked Data

• gnomAD v4: 17-63496941-G-A
• MyVariant Identifiers: chr17:g.61574302G>A (hg19) ; chr17:g.63496941G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496941G>A , CM000679.2:g.63496941G>A	GRCh38
NC_000017.10:g.61574302G>A , CM000679.1:g.61574302G>A	GRCh37
NC_000017.9:g.58928034G>A	NCBI36
NG_011648.1:g.24869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3647G>A MANE Select	ENSP00000290866.4:p.Gly1216Glu
ENST00000290863.10:c.1925G>A	ENSP00000290863.6:p.Gly642Glu
ENST00000290866.9:c.3647G>A	ENSP00000290866.4:p.Gly1216Glu
ENST00000413513.7:c.1802G>A	ENSP00000392247.3:p.Gly601Glu
ENST00000428043.5:c.3647G>A	ENSP00000397593.2:p.Gly1216Glu
ENST00000577418.5:n.657G>A
ENST00000577647.2:c.1925G>A	ENSP00000464149.1:p.Gly642Glu
ENST00000578839.5:c.*1402G>A	ENSP00000462110.2:n.*1402G>A
ENST00000579314.5:c.*1376G>A	ENSP00000462599.1:n.*1376G>A
ENST00000579409.1:c.334G>A
ENST00000582244.1:n.521G>A
NM_000789.3:c.3647G>A	NP_000780.1:p.Gly1216Glu
NM_001178057.1:c.1802G>A	NP_001171528.1:p.Gly601Glu
NM_152830.2:c.1925G>A	NP_690043.1:p.Gly642Glu
XM_005257110.1:c.3098G>A	XP_005257167.1:p.Gly1033Glu
XM_006721737.2:c.1985G>A	XP_006721800.2:p.Gly662Glu
XM_006721737.3:c.1985G>A	XP_006721800.2:p.Gly662Glu
NM_000789.4:c.3647G>A MANE Select	NP_000780.1:p.Gly1216Glu
NM_001178057.2:c.1802G>A	NP_001171528.1:p.Gly601Glu
NM_152830.3:c.1925G>A	NP_690043.1:p.Gly642Glu
NM_001382700.1:c.3080G>A	NP_001369629.1:p.Gly1027Glu
NM_001382701.1:c.2795G>A	NP_001369630.1:p.Gly932Glu
NM_001382702.1:c.1262G>A	NP_001369631.1:p.Gly421Glu
NR_168483.1:n.2025G>A