Canonical Allele Identifier: CA373486217

Gene: PAX5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36846869C>T , CM000671.2:g.36846869C>T	GRCh38
NC_000009.11:g.36846866C>T , CM000671.1:g.36846866C>T	GRCh37
NC_000009.10:g.36836866C>T	NCBI36
NG_033894.1:g.192611G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016734.3:c.1073G>A MANE Select	NP_057953.1:p.Trp358Ter
ENST00000358127.9:c.1073G>A MANE Select	ENSP00000350844.4:p.Trp358Ter
NM_001280547.1:c.971G>A	NP_001267476.1:p.Trp324Ter
NM_001280547.2:c.971G>A	NP_001267476.1:p.Trp324Ter
NM_001280548.1:c.1013-6233G>A	NP_001267477.1:n.1013-6233G>A
NM_001280548.2:c.1013-6233G>A	NP_001267477.1:n.1013-6233G>A
NM_001280549.1:c.841G>A	NP_001267478.1:p.Gly281Arg
NM_001280549.2:c.841G>A	NP_001267478.1:p.Gly281Arg
NM_001280550.1:c.781-6233G>A	NP_001267479.1:n.781-6233G>A
NM_001280550.2:c.781-6233G>A	NP_001267479.1:n.781-6233G>A
NM_001280551.1:c.587-6233G>A	NP_001267480.1:n.587-6233G>A
NM_001280551.2:c.587-6233G>A	NP_001267480.1:n.587-6233G>A
NM_001280552.1:c.911-6233G>A	NP_001267481.1:n.911-6233G>A
NM_001280552.2:c.911-6233G>A	NP_001267481.1:n.911-6233G>A
NM_001280553.1:c.884-6233G>A	NP_001267482.1:n.884-6233G>A
NM_001280553.2:c.884-6233G>A	NP_001267482.1:n.884-6233G>A
NM_001280554.1:c.944G>A	NP_001267483.1:p.Trp315Ter
NM_001280554.2:c.944G>A	NP_001267483.1:p.Trp315Ter
NM_001280555.1:c.773G>A	NP_001267484.1:p.Trp258Ter
NM_001280555.2:c.773G>A	NP_001267484.1:p.Trp258Ter
NM_001280556.1:c.749G>A	NP_001267485.1:p.Trp250Ter
NM_001280556.2:c.749G>A	NP_001267485.1:p.Trp250Ter
NM_016734.2:c.1073G>A	NP_057953.1:p.Trp358Ter
NR_103999.1:n.1391G>A
NR_103999.2:n.1180G>A
NR_104000.1:n.1448G>A
NR_104000.2:n.1237G>A
ENST00000358127.8:c.1073G>A	ENSP00000350844.4:p.Trp358Ter
ENST00000377840.6:c.*76G>A	ENSP00000367071.2:n.*76G>A
ENST00000377847.6:c.911-6233G>A	ENSP00000367078.2:n.911-6233G>A
ENST00000377852.6:c.971G>A	ENSP00000367083.2:p.Trp324Ter
ENST00000377852.7:c.971G>A	ENSP00000367083.2:p.Trp324Ter
ENST00000377853.6:c.1013-6233G>A	ENSP00000367084.2:n.1013-6233G>A
ENST00000414447.5:c.944G>A	ENSP00000412188.1:p.Trp315Ter
ENST00000446742.5:c.773G>A	ENSP00000404687.1:p.Trp258Ter
ENST00000520154.5:c.781-6233G>A	ENSP00000429291.1:n.781-6233G>A
ENST00000520154.6:c.781-6233G>A	ENSP00000429291.1:n.781-6233G>A
ENST00000520281.5:c.884-6233G>A	ENSP00000430773.1:n.884-6233G>A
ENST00000522003.5:c.749G>A	ENSP00000429359.1:p.Trp250Ter
ENST00000522932.1:c.106-6233G>A
ENST00000523145.5:c.587-6233G>A	ENSP00000429197.1:n.587-6233G>A
ENST00000523241.5:c.841G>A	ENSP00000429637.1:p.Gly281Arg
ENST00000523241.6:c.841G>A	ENSP00000429637.1:p.Gly281Arg
ENST00000523493.5:c.1000G>A	ENSP00000431038.1:n.1000G>A
ENST00000524340.5:c.554G>A	ENSP00000429404.1:p.Trp185Ter
ENST00000651550.1:c.749G>A	ENSP00000498443.1:p.Trp250Ter
XM_005251481.3:c.1070G>A	XP_005251538.1:p.Trp357Ter
XM_011517896.1:c.1130G>A	XP_011516198.1:p.Trp377Ter
XM_011517897.1:c.1127G>A	XP_011516199.1:p.Trp376Ter