Canonical Allele Identifier: CA3265743
Gene: GZMA HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.55108312G>A
GRCh37 chr5:g.54404140G>A
Revel Score:
ENST00000274306 (MANE Select) 0.308
gnomAD v2:
5:54404140 G / A
gnomAD v3:
5:55108312 G / A
gnomAD v4:
chr5-55108312-G-A
Joint Max Group AF 0.00016139 (NFE)
Genomes Max Group AF 0.00006804 (NFE)
Exomes Max Group AF 0.00016326 (NFE)
ClinVar RCV:
RCV004221017
ClinVar Variation:
2380477
dbSNP:
142064253
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55108312G>A , CM000667.2:g.55108312G>A GRCh38
NC_000005.9:g.54404140G>A , CM000667.1:g.54404140G>A GRCh37
NC_000005.8:g.54439897G>A NCBI36
NG_027996.1:g.10667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274306.7:c.545G>A MANE Select ENSP00000274306.6:p.Arg182Gln
ENST00000274306.6:c.545G>A ENSP00000274306.6:p.Arg182Gln
NM_006144.3:c.545G>A NP_006135.1:p.Arg182Gln
NM_006144.4:c.545G>A MANE Select NP_006135.2:p.Arg182Gln
Search 100 bp 5'
Search 100 bp 3'