Canonical Allele Identifier: CA3265742
Gene: GZMA HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.55108300T>C
GRCh37 chr5:g.54404128T>C
Revel Score:
ENST00000274306 (MANE Select) 0.198
gnomAD v2:
5:54404128 T / C
gnomAD v3:
5:55108300 T / C
gnomAD v4:
chr5-55108300-T-C
Joint Max Group AF 0.00002255 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV004076915
ClinVar Variation:
2209421
dbSNP:
779138746
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55108300T>C , CM000667.2:g.55108300T>C GRCh38
NC_000005.9:g.54404128T>C , CM000667.1:g.54404128T>C GRCh37
NC_000005.8:g.54439885T>C NCBI36
NG_027996.1:g.10655T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274306.7:c.533T>C MANE Select ENSP00000274306.6:p.Val178Ala
ENST00000274306.6:c.533T>C ENSP00000274306.6:p.Val178Ala
NM_006144.3:c.533T>C NP_006135.1:p.Val178Ala
NM_006144.4:c.533T>C MANE Select NP_006135.2:p.Val178Ala
Search 100 bp 5'
Search 100 bp 3'