Canonical Allele Identifier: CA16295418
Gene: JAZF1 HGNC NCBI

Linked Data

dbSNP Id: rs864745
gnomAD v2: 7-28180556-T-C
gnomAD v3: 7-28140937-T-C
gnomAD v4: 7-28140937-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.28140937T>C , CM000669.2:g.28140937T>C GRCh38
NC_000007.13:g.28180556T>C , CM000669.1:g.28180556T>C GRCh37
NC_000007.12:g.28147081T>C NCBI36
NG_011499.1:g.44882A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000283928.10:c.115+39526A>G MANE Select ENSP00000283928.5:n.115+39526A>G
ENST00000649905.1:c.116-39133A>G ENSP00000497321.1:n.116-39133A>G
ENST00000283928.9:c.115+39526A>G ENSP00000283928.5:n.115+39526A>G
ENST00000452993.5:c.115+39526A>G ENSP00000415984.1:n.115+39526A>G
ENST00000454041.1:c.115+39526A>G ENSP00000399083.1:n.115+39526A>G
NM_175061.3:c.115+39526A>G NP_778231.2:n.115+39526A>G
XM_006715656.1:c.-140+39526A>G XP_006715719.1:n.-140+39526A>G
XR_926924.1:n.230+39526A>G
NM_175061.4:c.115+39526A>G MANE Select NP_778231.2:n.115+39526A>G