Canonical Allele Identifier: CA292883907

Gene: ACE

Linked Data

• ClinVar Variation Id: 3031425
• ClinVar RCV Id: RCV004548879
• dbSNP Id: rs990108624
• gnomAD v2: 17-61566390-G-A
• gnomAD v3: 17-63489029-G-A
• gnomAD v4: 17-63489029-G-A
• MyVariant Identifiers: chr17:g.61566390G>A (hg19) ; chr17:g.63489029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489029G>A , CM000679.2:g.63489029G>A	GRCh38
NC_000017.10:g.61566390G>A , CM000679.1:g.61566390G>A	GRCh37
NC_000017.9:g.58920122G>A	NCBI36
NG_011648.1:g.16957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2538G>A MANE Select	ENSP00000290866.4:p.Gln846=
ENST00000290863.10:c.816G>A	ENSP00000290863.6:p.Gln272=
ENST00000290866.9:c.2538G>A	ENSP00000290866.4:p.Gln846=
ENST00000413513.7:c.816G>A	ENSP00000392247.3:p.Gln272=
ENST00000428043.5:c.2538G>A	ENSP00000397593.2:p.Gln846=
ENST00000577647.2:c.816G>A	ENSP00000464149.1:p.Gln272=
ENST00000578839.5:c.*519+238G>A	ENSP00000462110.2:n.*519+238G>A
ENST00000579204.1:c.797G>A	ENSP00000464629.1:n.797G>A
ENST00000579314.5:c.*267G>A	ENSP00000462599.1:n.*267G>A
ENST00000582005.5:c.*458G>A	ENSP00000462002.1:n.*458G>A
ENST00000582761.1:c.306G>A	ENSP00000462909.1:p.Gln102=
ENST00000584865.5:n.484G>A
NM_000789.3:c.2538G>A	NP_000780.1:p.Gln846=
NM_001178057.1:c.816G>A	NP_001171528.1:p.Gln272=
NM_152830.2:c.816G>A	NP_690043.1:p.Gln272=
XM_005257110.1:c.1989G>A	XP_005257167.1:p.Gln663=
XM_006721737.2:c.876G>A	XP_006721800.2:p.Gln292=
XM_006721737.3:c.876G>A	XP_006721800.2:p.Gln292=
NM_000789.4:c.2538G>A MANE Select	NP_000780.1:p.Gln846=
NM_001178057.2:c.816G>A	NP_001171528.1:p.Gln272=
NM_152830.3:c.816G>A	NP_690043.1:p.Gln272=
NM_001382700.1:c.1971G>A	NP_001369629.1:p.Gln657=
NM_001382701.1:c.1686G>A	NP_001369630.1:p.Gln562=
NM_001382702.1:c.379+238G>A	NP_001369631.1:n.379+238G>A
NR_168483.1:n.916G>A