Canonical Allele Identifier: CA8699431

Gene: ACE

Linked Data

• dbSNP Id: rs745548368
• ExAC: 17:61559881 G / A
• gnomAD v2: 17-61559881-G-A
• gnomAD v4: 17-63482520-G-A
• MyVariant Identifiers: chr17:g.61559881G>A (hg19) ; chr17:g.63482520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482520G>A , CM000679.2:g.63482520G>A	GRCh38
NC_000017.10:g.61559881G>A , CM000679.1:g.61559881G>A	GRCh37
NC_000017.9:g.58913613G>A	NCBI36
NG_011648.1:g.10448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1173G>A MANE Select	ENSP00000290866.4:p.Glu391=
ENST00000290866.9:c.1173G>A	ENSP00000290866.4:p.Glu391=
ENST00000428043.5:c.1173G>A	ENSP00000397593.2:p.Glu391=
ENST00000582678.5:c.*572G>A	ENSP00000462995.1:n.*572G>A
ENST00000584529.5:n.1207G>A
NM_000789.3:c.1173G>A	NP_000780.1:p.Glu391=
XM_005257110.1:c.624G>A	XP_005257167.1:p.Glu208=
NM_000789.4:c.1173G>A MANE Select	NP_000780.1:p.Glu391=
NM_001382700.1:c.606G>A	NP_001369629.1:p.Glu202=
NM_001382701.1:c.321G>A	NP_001369630.1:p.Glu107=