Canonical Allele Identifier: CA12000625
Gene: GZMK HGNC NCBI
COSMIC:
COSN14904115 (not active)
MyVariant.info:
GRCh38 chr5:g.55032127G>T
GRCh37 chr5:g.54327955G>T
gnomAD v2:
5:54327955 G / T
gnomAD v3:
5:55032127 G / T
gnomAD v4:
chr5-55032127-G-T
Joint Max Group AF 0.49405647 (AFR)
Genomes Max Group AF 0.49405647 (AFR)
dbSNP:
2112938
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55032127G>T , CM000667.2:g.55032127G>T GRCh38
NC_000005.9:g.54327955G>T , CM000667.1:g.54327955G>T GRCh37
NC_000005.8:g.54363712G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231009.3:c.633+494G>T MANE Select ENSP00000231009.2:n.633+494G>T
ENST00000231009.2:c.633+494G>T ENSP00000231009.2:n.633+494G>T
NM_002104.2:c.633+494G>T NP_002095.1:n.633+494G>T
NM_002104.3:c.633+494G>T MANE Select NP_002095.1:n.633+494G>T
Search 100 bp 5'
Search 100 bp 3'