Canonical Allele Identifier: CA156427154
Gene: JAZF1 HGNC NCBI

Linked Data

dbSNP Id: rs929493760
MyVariant Identifiers: chr7:g.28180523A>G (hg19) chr7:g.28140904A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.28140904A>G , CM000669.2:g.28140904A>G GRCh38
NC_000007.13:g.28180523A>G , CM000669.1:g.28180523A>G GRCh37
NC_000007.12:g.28147048A>G NCBI36
NG_011499.1:g.44915T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000283928.10:c.115+39559T>C MANE Select ENSP00000283928.5:n.115+39559T>C
ENST00000649905.1:c.116-39100T>C ENSP00000497321.1:n.116-39100T>C
ENST00000283928.9:c.115+39559T>C ENSP00000283928.5:n.115+39559T>C
ENST00000452993.5:c.115+39559T>C ENSP00000415984.1:n.115+39559T>C
ENST00000454041.1:c.115+39559T>C ENSP00000399083.1:n.115+39559T>C
NM_175061.3:c.115+39559T>C NP_778231.2:n.115+39559T>C
XM_006715656.1:c.-140+39559T>C XP_006715719.1:n.-140+39559T>C
XR_926924.1:n.230+39559T>C
NM_175061.4:c.115+39559T>C MANE Select NP_778231.2:n.115+39559T>C
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