Canonical Allele Identifier: CA12460650
Gene: JAZF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.28149464T>G , CM000669.2:g.28149464T>G GRCh38
NC_000007.13:g.28189083T>G , CM000669.1:g.28189083T>G GRCh37
NC_000007.12:g.28155608T>G NCBI36
NG_011499.1:g.36355A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000283928.10:c.115+30999A>C MANE Select ENSP00000283928.5:n.115+30999A>C
ENST00000649905.1:c.115+30999A>C ENSP00000497321.1:n.115+30999A>C
ENST00000283928.9:c.115+30999A>C ENSP00000283928.5:n.115+30999A>C
ENST00000452993.5:c.115+30999A>C ENSP00000415984.1:n.115+30999A>C
ENST00000454041.1:c.115+30999A>C ENSP00000399083.1:n.115+30999A>C
NM_175061.3:c.115+30999A>C NP_778231.2:n.115+30999A>C
XM_006715656.1:c.-140+30999A>C XP_006715719.1:n.-140+30999A>C
XR_926924.1:n.230+30999A>C
NM_175061.4:c.115+30999A>C MANE Select NP_778231.2:n.115+30999A>C