Canonical Allele Identifier: CA1696575911
Gene: JAZF1 HGNC NCBI

Linked Data

dbSNP Id: rs1784769881
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27936899C>T , CM000669.2:g.27936899C>T GRCh38
NC_000007.13:g.27976518C>T , CM000669.1:g.27976518C>T GRCh37
NC_000007.12:g.27943043C>T NCBI36
NG_011499.1:g.248920G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000283928.10:c.189-41483G>A MANE Select ENSP00000283928.5:n.189-41483G>A
ENST00000649905.1:c.*231-41483G>A ENSP00000497321.1:n.*231-41483G>A
ENST00000283928.9:c.189-41483G>A ENSP00000283928.5:n.189-41483G>A
ENST00000420835.4:n.321-41483G>A
ENST00000427814.5:c.149-41483G>A
ENST00000430432.5:c.90-41483G>A ENSP00000387976.1:n.90-41483G>A
ENST00000447620.5:c.117-41483G>A ENSP00000415096.1:n.117-41483G>A
ENST00000452993.5:c.189-22091G>A ENSP00000415984.1:n.189-22091G>A
ENST00000454041.1:c.189-23446G>A ENSP00000399083.1:n.189-23446G>A
NM_175061.3:c.189-41483G>A NP_778231.2:n.189-41483G>A
XM_006715656.1:c.-66-23446G>A XP_006715719.1:n.-66-23446G>A
XR_926924.1:n.333-23446G>A
NM_175061.4:c.189-41483G>A MANE Select NP_778231.2:n.189-41483G>A
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