Canonical Allele Identifier: CA1696575795
Gene: JAZF1 HGNC NCBI

Linked Data

dbSNP Id: rs995889895

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27936750G>T , CM000669.2:g.27936750G>T GRCh38
NC_000007.13:g.27976369G>T , CM000669.1:g.27976369G>T GRCh37
NC_000007.12:g.27942894G>T NCBI36
NG_011499.1:g.249069C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000283928.10:c.189-41334C>A MANE Select ENSP00000283928.5:n.189-41334C>A
ENST00000649905.1:c.*231-41334C>A ENSP00000497321.1:n.*231-41334C>A
ENST00000283928.9:c.189-41334C>A ENSP00000283928.5:n.189-41334C>A
ENST00000420835.4:n.321-41334C>A
ENST00000427814.5:c.149-41334C>A
ENST00000430432.5:c.90-41334C>A ENSP00000387976.1:n.90-41334C>A
ENST00000447620.5:c.117-41334C>A ENSP00000415096.1:n.117-41334C>A
ENST00000452993.5:c.189-21942C>A ENSP00000415984.1:n.189-21942C>A
ENST00000454041.1:c.189-23297C>A ENSP00000399083.1:n.189-23297C>A
NM_175061.3:c.189-41334C>A NP_778231.2:n.189-41334C>A
XM_006715656.1:c.-66-23297C>A XP_006715719.1:n.-66-23297C>A
XR_926924.1:n.333-23297C>A
NM_175061.4:c.189-41334C>A MANE Select NP_778231.2:n.189-41334C>A