Canonical Allele Identifier: CA1099677153

Gene: JAZF1

Linked Data

• dbSNP Id: rs1783014477
• gnomAD v3: 7-28145522-C-T
• gnomAD v4: 7-28145522-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.28145522C>T , CM000669.2:g.28145522C>T	GRCh38
NC_000007.13:g.28185141C>T , CM000669.1:g.28185141C>T	GRCh37
NC_000007.12:g.28151666C>T	NCBI36
NG_011499.1:g.40297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.115+34941G>A MANE Select	ENSP00000283928.5:n.115+34941G>A
ENST00000649905.1:c.115+34941G>A	ENSP00000497321.1:n.115+34941G>A
ENST00000283928.9:c.115+34941G>A	ENSP00000283928.5:n.115+34941G>A
ENST00000452993.5:c.115+34941G>A	ENSP00000415984.1:n.115+34941G>A
ENST00000454041.1:c.115+34941G>A	ENSP00000399083.1:n.115+34941G>A
NM_175061.3:c.115+34941G>A	NP_778231.2:n.115+34941G>A
XM_006715656.1:c.-140+34941G>A	XP_006715719.1:n.-140+34941G>A
XR_926924.1:n.230+34941G>A
NM_175061.4:c.115+34941G>A MANE Select	NP_778231.2:n.115+34941G>A