Canonical Allele Identifier: CA8699550
Gene: ACE HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.63483173G>A
GRCh37 chr17:g.61560534G>A
Revel Score:
ENST00000290866 (MANE Select) 0.593
ENST00000428043 0.593
gnomAD v2:
17:61560534 G / A
gnomAD v3:
17:63483173 G / A
gnomAD v4:
chr17-63483173-G-A
Joint Max Group AF 0.00005137 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00005396 (SAS)
ClinVar RCV:
RCV000479383
ClinVar Variation:
424035
dbSNP:
761345398
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483173G>A , CM000679.2:g.63483173G>A GRCh38
NC_000017.10:g.61560534G>A , CM000679.1:g.61560534G>A GRCh37
NC_000017.9:g.58914266G>A NCBI36
NG_011648.1:g.11101G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.1487G>A MANE Select ENSP00000290866.4:p.Arg496Gln
ENST00000290866.9:c.1487G>A ENSP00000290866.4:p.Arg496Gln
ENST00000428043.5:c.1487G>A ENSP00000397593.2:p.Arg496Gln
ENST00000582678.5:c.*886G>A ENSP00000462995.1:n.*886G>A
ENST00000584529.5:n.1377-287G>A
NM_000789.3:c.1487G>A NP_000780.1:p.Arg496Gln
XM_005257110.1:c.938G>A XP_005257167.1:p.Arg313Gln
NM_000789.4:c.1487G>A MANE Select NP_000780.1:p.Arg496Gln
NM_001382700.1:c.920G>A NP_001369629.1:p.Arg307Gln
NM_001382701.1:c.635G>A NP_001369630.1:p.Arg212Gln
Search 100 bp 5'
Search 100 bp 3'