Canonical Allele Identifier: CA8699008

Gene: ACE

Linked Data

• ClinVar Variation Id: 1359925
• ClinVar RCV Id: RCV001904605
• dbSNP Id: rs150382846
• ExAC: 17:61555295 G / A
• gnomAD v2: 17-61555295-G-A
• gnomAD v3: 17-63477934-G-A
• gnomAD v4: 17-63477934-G-A
• MyVariant Identifiers: chr17:g.61555295G>A (hg19) ; chr17:g.63477934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477934G>A , CM000679.2:g.63477934G>A	GRCh38
NC_000017.10:g.61555295G>A , CM000679.1:g.61555295G>A	GRCh37
NC_000017.9:g.58909027G>A	NCBI36
NG_011648.1:g.5862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.253G>A MANE Select	ENSP00000290866.4:p.Glu85Lys
ENST00000290866.9:c.253G>A	ENSP00000290866.4:p.Glu85Lys
ENST00000428043.5:c.253G>A	ENSP00000397593.2:p.Glu85Lys
ENST00000579462.1:n.278G>A
ENST00000580318.1:n.442G>A
ENST00000582627.1:c.253G>A	ENSP00000462280.1:p.Glu85Lys
ENST00000582678.5:c.253G>A	ENSP00000462995.1:p.Glu85Lys
ENST00000583336.5:n.287G>A
ENST00000584529.5:n.287G>A
NM_000789.3:c.253G>A	NP_000780.1:p.Glu85Lys
XM_005257110.1:c.-203G>A	XP_005257167.1:n.-203G>A
NM_000789.4:c.253G>A MANE Select	NP_000780.1:p.Glu85Lys
NM_001382700.1:c.18G>A	NP_001369629.1:p.Arg6=
NM_001382701.1:c.-362G>A	NP_001369630.1:n.-362G>A