Canonical Allele Identifier: CA2501069574
Gene: JAZF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27936895A>G , CM000669.2:g.27936895A>G GRCh38
NC_000007.13:g.27976514A>G , CM000669.1:g.27976514A>G GRCh37
NC_000007.12:g.27943039A>G NCBI36
NG_011499.1:g.248924T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000283928.10:c.189-41479T>C MANE Select ENSP00000283928.5:n.189-41479T>C
ENST00000649905.1:c.*231-41479T>C ENSP00000497321.1:n.*231-41479T>C
ENST00000283928.9:c.189-41479T>C ENSP00000283928.5:n.189-41479T>C
ENST00000420835.4:n.321-41479T>C
ENST00000427814.5:c.149-41479T>C
ENST00000430432.5:c.90-41479T>C ENSP00000387976.1:n.90-41479T>C
ENST00000447620.5:c.117-41479T>C ENSP00000415096.1:n.117-41479T>C
ENST00000452993.5:c.189-22087T>C ENSP00000415984.1:n.189-22087T>C
ENST00000454041.1:c.189-23442T>C ENSP00000399083.1:n.189-23442T>C
NM_175061.3:c.189-41479T>C NP_778231.2:n.189-41479T>C
XM_006715656.1:c.-66-23442T>C XP_006715719.1:n.-66-23442T>C
XR_926924.1:n.333-23442T>C
NM_175061.4:c.189-41479T>C MANE Select NP_778231.2:n.189-41479T>C
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