Canonical Allele Identifier: CA193163991
Community Standard Title: NM_016734.3(PAX5):c.77T>G (p.Val26Gly)
Gene: PAX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37020771A>C , CM000671.2:g.37020771A>C GRCh38
NC_000009.11:g.37020768A>C , CM000671.1:g.37020768A>C GRCh37
NC_000009.10:g.37010768A>C NCBI36
NG_033894.1:g.18709T>G

Transcript Alleles

HGVS Amino-acid Change
NM_016734.3:c.77T>G MANE Select NP_057953.1:p.Val26Gly
ENST00000358127.9:c.77T>G MANE Select ENSP00000350844.4:p.Val26Gly
NM_001280547.1:c.77T>G NP_001267476.1:p.Val26Gly
NM_001280547.2:c.77T>G NP_001267476.1:p.Val26Gly
NM_001280548.1:c.77T>G NP_001267477.1:p.Val26Gly
NM_001280548.2:c.77T>G NP_001267477.1:p.Val26Gly
NM_001280549.1:c.77T>G NP_001267478.1:p.Val26Gly
NM_001280549.2:c.77T>G NP_001267478.1:p.Val26Gly
NM_001280550.1:c.77T>G NP_001267479.1:p.Val26Gly
NM_001280550.2:c.77T>G NP_001267479.1:p.Val26Gly
NM_001280551.1:c.-112-5577T>G NP_001267480.1:n.-112-5577T>G
NM_001280551.2:c.-112-5577T>G NP_001267480.1:n.-112-5577T>G
NM_001280552.1:c.77T>G NP_001267481.1:p.Val26Gly
NM_001280552.2:c.77T>G NP_001267481.1:p.Val26Gly
NM_001280553.1:c.77T>G NP_001267482.1:p.Val26Gly
NM_001280553.2:c.77T>G NP_001267482.1:p.Val26Gly
NM_001280554.1:c.77T>G NP_001267483.1:p.Val26Gly
NM_001280554.2:c.77T>G NP_001267483.1:p.Val26Gly
NM_001280555.1:c.77T>G NP_001267484.1:p.Val26Gly
NM_001280555.2:c.77T>G NP_001267484.1:p.Val26Gly
NM_001280556.1:c.-112-5577T>G NP_001267485.1:n.-112-5577T>G
NM_001280556.2:c.-112-5577T>G NP_001267485.1:n.-112-5577T>G
NM_016734.2:c.77T>G NP_057953.1:p.Val26Gly
NR_103999.1:n.525T>G
NR_103999.2:n.314T>G
NR_104000.1:n.525T>G
NR_104000.2:n.314T>G
ENST00000358127.8:c.77T>G ENSP00000350844.4:p.Val26Gly
ENST00000377840.6:c.77T>G ENSP00000367071.2:p.Val26Gly
ENST00000377847.6:c.77T>G ENSP00000367078.2:p.Val26Gly
ENST00000377852.6:c.77T>G ENSP00000367083.2:p.Val26Gly
ENST00000377852.7:c.77T>G ENSP00000367083.2:p.Val26Gly
ENST00000377853.6:c.77T>G ENSP00000367084.2:p.Val26Gly
ENST00000414447.5:c.77T>G ENSP00000412188.1:p.Val26Gly
ENST00000446742.5:c.77T>G ENSP00000404687.1:p.Val26Gly
ENST00000520154.5:c.77T>G ENSP00000429291.1:p.Val26Gly
ENST00000520154.6:c.77T>G ENSP00000429291.1:p.Val26Gly
ENST00000520281.5:c.77T>G ENSP00000430773.1:p.Val26Gly
ENST00000522003.5:c.-112-5577T>G ENSP00000429359.1:n.-112-5577T>G
ENST00000523145.5:c.-112-5577T>G ENSP00000429197.1:n.-112-5577T>G
ENST00000523241.5:c.77T>G ENSP00000429637.1:p.Val26Gly
ENST00000523241.6:c.77T>G ENSP00000429637.1:p.Val26Gly
ENST00000523493.5:c.77T>G ENSP00000431038.1:p.Val26Gly
ENST00000651199.1:n.74T>G
ENST00000651550.1:c.-248T>G ENSP00000498443.1:n.-248T>G
XM_005251481.3:c.74T>G XP_005251538.1:p.Val25Gly
XM_011517896.1:c.77T>G XP_011516198.1:p.Val26Gly
XM_011517897.1:c.74T>G XP_011516199.1:p.Val25Gly