Canonical Allele Identifier: CA559330933
Gene: GZMK HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000231009.3:c.633+494G>C MANE Select ENSP00000231009.2:n.633+494G>C
ENST00000231009.2:c.633+494G>C ENSP00000231009.2:n.633+494G>C
NM_002104.2:c.633+494G>C NP_002095.1:n.633+494G>C
NM_002104.3:c.633+494G>C MANE Select NP_002095.1:n.633+494G>C