Canonical Allele Identifier: CA8699478

Gene: ACE

Linked Data

• dbSNP Id: rs759696556
• ExAC: 17:61560034 T / A
• gnomAD v2: 17-61560034-T-A
• gnomAD v4: 17-63482673-T-A
• MyVariant Identifiers: chr17:g.61560034T>A (hg19) ; chr17:g.63482673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482673T>A , CM000679.2:g.63482673T>A	GRCh38
NC_000017.10:g.61560034T>A , CM000679.1:g.61560034T>A	GRCh37
NC_000017.9:g.58913766T>A	NCBI36
NG_011648.1:g.10601T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1326T>A MANE Select	ENSP00000290866.4:p.Arg442=
ENST00000290866.9:c.1326T>A	ENSP00000290866.4:p.Arg442=
ENST00000428043.5:c.1326T>A	ENSP00000397593.2:p.Arg442=
ENST00000582678.5:c.*725T>A	ENSP00000462995.1:n.*725T>A
ENST00000584529.5:n.1360T>A
NM_000789.3:c.1326T>A	NP_000780.1:p.Arg442=
XM_005257110.1:c.777T>A	XP_005257167.1:p.Arg259=
NM_000789.4:c.1326T>A MANE Select	NP_000780.1:p.Arg442=
NM_001382700.1:c.759T>A	NP_001369629.1:p.Arg253=
NM_001382701.1:c.474T>A	NP_001369630.1:p.Arg158=