Canonical Allele Identifier: CA359721814
Gene: GZMA HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.55102728G>T
GRCh37 chr5:g.54398556G>T
Revel Score:
ENST00000274306 (MANE Select) 0.238
ClinVar RCV:
RCV004355542
ClinVar Variation:
2609171
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55102728G>T , CM000667.2:g.55102728G>T GRCh38
NC_000005.9:g.54398556G>T , CM000667.1:g.54398556G>T GRCh37
NC_000005.8:g.54434313G>T NCBI36
NG_027996.1:g.5083G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274306.7:c.46G>T MANE Select ENSP00000274306.6:p.Val16Phe
ENST00000274306.6:c.46G>T ENSP00000274306.6:p.Val16Phe
NM_006144.3:c.46G>T NP_006135.1:p.Val16Phe
NM_006144.4:c.46G>T MANE Select NP_006135.2:p.Val16Phe
Search 100 bp 5'
Search 100 bp 3'