Canonical Allele Identifier: CA400556709

Gene: ACE

Linked Data

• dbSNP Id: rs1599146760
• gnomAD v3: 17-63487013-A-G
• gnomAD v4: 17-63487013-A-G
• MyVariant Identifiers: chr17:g.61564374A>G (hg19) ; chr17:g.63487013A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487013A>G , CM000679.2:g.63487013A>G	GRCh38
NC_000017.10:g.61564374A>G , CM000679.1:g.61564374A>G	GRCh37
NC_000017.9:g.58918106A>G	NCBI36
NG_011648.1:g.14941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2245A>G MANE Select	ENSP00000290866.4:p.Thr749Ala
ENST00000290863.10:c.523A>G	ENSP00000290863.6:p.Thr175Ala
ENST00000290866.9:c.2245A>G	ENSP00000290866.4:p.Thr749Ala
ENST00000413513.7:c.523A>G	ENSP00000392247.3:p.Thr175Ala
ENST00000428043.5:c.2245A>G	ENSP00000397593.2:p.Thr749Ala
ENST00000577647.2:c.523A>G	ENSP00000464149.1:p.Thr175Ala
ENST00000578839.5:c.*315A>G	ENSP00000462110.2:n.*315A>G
ENST00000579204.1:c.426A>G	ENSP00000464629.1:n.426A>G
ENST00000579314.5:c.523A>G	ENSP00000462599.1:p.Thr175Ala
ENST00000579726.5:c.807A>G
ENST00000582005.5:c.*165A>G	ENSP00000462002.1:n.*165A>G
ENST00000582761.1:c.13A>G	ENSP00000462909.1:p.Thr5Ala
ENST00000584865.5:n.191A>G
NM_000789.3:c.2245A>G	NP_000780.1:p.Thr749Ala
NM_001178057.1:c.523A>G	NP_001171528.1:p.Thr175Ala
NM_152830.2:c.523A>G	NP_690043.1:p.Thr175Ala
XM_005257110.1:c.1696A>G	XP_005257167.1:p.Thr566Ala
XM_006721737.2:c.583A>G	XP_006721800.2:p.Thr195Ala
XM_006721737.3:c.583A>G	XP_006721800.2:p.Thr195Ala
NM_000789.4:c.2245A>G MANE Select	NP_000780.1:p.Thr749Ala
NM_001178057.2:c.523A>G	NP_001171528.1:p.Thr175Ala
NM_152830.3:c.523A>G	NP_690043.1:p.Thr175Ala
NM_001382700.1:c.1678A>G	NP_001369629.1:p.Thr560Ala
NM_001382701.1:c.1393A>G	NP_001369630.1:p.Thr465Ala
NM_001382702.1:c.175A>G	NP_001369631.1:p.Thr59Ala
NR_168483.1:n.545A>G