Canonical Allele Identifier: CA8700130

Gene: ACE

Linked Data

• ClinVar Variation Id: 3047746
• ClinVar RCV Id: RCV004552795
• dbSNP Id: rs149528336
• ExAC: 17:61566324 G / A
• gnomAD v2: 17-61566324-G-A
• gnomAD v3: 17-63488963-G-A
• gnomAD v4: 17-63488963-G-A
• MyVariant Identifiers: chr17:g.61566324G>A (hg19) ; chr17:g.63488963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488963G>A , CM000679.2:g.63488963G>A	GRCh38
NC_000017.10:g.61566324G>A , CM000679.1:g.61566324G>A	GRCh37
NC_000017.9:g.58920056G>A	NCBI36
NG_011648.1:g.16891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2472G>A MANE Select	ENSP00000290866.4:p.Ser824=
ENST00000290863.10:c.750G>A	ENSP00000290863.6:p.Ser250=
ENST00000290866.9:c.2472G>A	ENSP00000290866.4:p.Ser824=
ENST00000413513.7:c.750G>A	ENSP00000392247.3:p.Ser250=
ENST00000428043.5:c.2472G>A	ENSP00000397593.2:p.Ser824=
ENST00000577647.2:c.750G>A	ENSP00000464149.1:p.Ser250=
ENST00000578839.5:c.*519+172G>A	ENSP00000462110.2:n.*519+172G>A
ENST00000579204.1:c.731G>A	ENSP00000464629.1:n.731G>A
ENST00000579314.5:c.*201G>A	ENSP00000462599.1:n.*201G>A
ENST00000582005.5:c.*392G>A	ENSP00000462002.1:n.*392G>A
ENST00000582761.1:c.240G>A	ENSP00000462909.1:p.Ser80=
ENST00000584865.5:n.418G>A
NM_000789.3:c.2472G>A	NP_000780.1:p.Ser824=
NM_001178057.1:c.750G>A	NP_001171528.1:p.Ser250=
NM_152830.2:c.750G>A	NP_690043.1:p.Ser250=
XM_005257110.1:c.1923G>A	XP_005257167.1:p.Ser641=
XM_006721737.2:c.810G>A	XP_006721800.2:p.Ser270=
XM_006721737.3:c.810G>A	XP_006721800.2:p.Ser270=
NM_000789.4:c.2472G>A MANE Select	NP_000780.1:p.Ser824=
NM_001178057.2:c.750G>A	NP_001171528.1:p.Ser250=
NM_152830.3:c.750G>A	NP_690043.1:p.Ser250=
NM_001382700.1:c.1905G>A	NP_001369629.1:p.Ser635=
NM_001382701.1:c.1620G>A	NP_001369630.1:p.Ser540=
NM_001382702.1:c.379+172G>A	NP_001369631.1:n.379+172G>A
NR_168483.1:n.850G>A