Canonical Allele Identifier: CA1099675846

Gene: JAZF1

Linked Data

• dbSNP Id: rs1782951359
• gnomAD v3: 7-28140919-A-T
• gnomAD v4: 7-28140919-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.28140919A>T , CM000669.2:g.28140919A>T	GRCh38
NC_000007.13:g.28180538A>T , CM000669.1:g.28180538A>T	GRCh37
NC_000007.12:g.28147063A>T	NCBI36
NG_011499.1:g.44900T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.115+39544T>A MANE Select	ENSP00000283928.5:n.115+39544T>A
ENST00000649905.1:c.116-39115T>A	ENSP00000497321.1:n.116-39115T>A
ENST00000283928.9:c.115+39544T>A	ENSP00000283928.5:n.115+39544T>A
ENST00000452993.5:c.115+39544T>A	ENSP00000415984.1:n.115+39544T>A
ENST00000454041.1:c.115+39544T>A	ENSP00000399083.1:n.115+39544T>A
NM_175061.3:c.115+39544T>A	NP_778231.2:n.115+39544T>A
XM_006715656.1:c.-140+39544T>A	XP_006715719.1:n.-140+39544T>A
XR_926924.1:n.230+39544T>A
NM_175061.4:c.115+39544T>A MANE Select	NP_778231.2:n.115+39544T>A