Canonical Allele Identifier: CA161360

Gene: PAX5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36840626G>A , CM000671.2:g.36840626G>A	GRCh38
NC_000009.11:g.36840623G>A , CM000671.1:g.36840623G>A	GRCh37
NC_000009.10:g.36830623G>A	NCBI36
NG_033894.1:g.198854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358127.9:c.1110C>T MANE Select	ENSP00000350844.4:p.Tyr370=
ENST00000377852.7:c.1008C>T	ENSP00000367083.2:p.Tyr336=
ENST00000520154.6:c.791C>T	ENSP00000429291.1:p.Thr264Ile
ENST00000523241.6:c.878C>T	ENSP00000429637.1:p.Thr293Ile
ENST00000651550.1:c.786C>T	ENSP00000498443.1:p.Tyr262=
ENST00000358127.8:c.1110C>T	ENSP00000350844.4:p.Tyr370=
ENST00000377840.6:c.*113C>T	ENSP00000367071.2:n.*113C>T
ENST00000377847.6:c.921C>T	ENSP00000367078.2:p.Tyr307=
ENST00000377852.6:c.1008C>T	ENSP00000367083.2:p.Tyr336=
ENST00000377853.6:c.1023C>T	ENSP00000367084.2:p.Tyr341=
ENST00000414447.5:c.981C>T	ENSP00000412188.1:p.Tyr327=
ENST00000446742.5:c.810C>T	ENSP00000404687.1:p.Tyr270=
ENST00000520154.5:c.791C>T	ENSP00000429291.1:p.Thr264Ile
ENST00000520281.5:c.894C>T	ENSP00000430773.1:p.Tyr298=
ENST00000522003.5:c.786C>T	ENSP00000429359.1:p.Tyr262=
ENST00000522932.1:c.116C>T
ENST00000523145.5:c.597C>T	ENSP00000429197.1:p.Tyr199=
ENST00000523241.5:c.878C>T	ENSP00000429637.1:p.Thr293Ile
ENST00000523493.5:c.1037C>T	ENSP00000431038.1:n.1037C>T
ENST00000524340.5:c.591C>T	ENSP00000429404.1:p.Tyr197=
NM_001280547.1:c.1008C>T	NP_001267476.1:p.Tyr336=
NM_001280548.1:c.1023C>T	NP_001267477.1:p.Tyr341=
NM_001280549.1:c.878C>T	NP_001267478.1:p.Thr293Ile
NM_001280550.1:c.791C>T	NP_001267479.1:p.Thr264Ile
NM_001280551.1:c.597C>T	NP_001267480.1:p.Tyr199=
NM_001280552.1:c.921C>T	NP_001267481.1:p.Tyr307=
NM_001280553.1:c.894C>T	NP_001267482.1:p.Tyr298=
NM_001280554.1:c.981C>T	NP_001267483.1:p.Tyr327=
NM_001280555.1:c.810C>T	NP_001267484.1:p.Tyr270=
NM_001280556.1:c.786C>T	NP_001267485.1:p.Tyr262=
NM_016734.2:c.1110C>T	NP_057953.1:p.Tyr370=
NR_103999.1:n.1428C>T
NR_104000.1:n.1485C>T
XM_005251481.3:c.1107C>T	XP_005251538.1:p.Tyr369=
XM_011517896.1:c.1167C>T	XP_011516198.1:p.Tyr389=
XM_011517897.1:c.1164C>T	XP_011516199.1:p.Tyr388=
NM_016734.3:c.1110C>T MANE Select	NP_057953.1:p.Tyr370=
NM_001280547.2:c.1008C>T	NP_001267476.1:p.Tyr336=
NM_001280548.2:c.1023C>T	NP_001267477.1:p.Tyr341=
NM_001280549.2:c.878C>T	NP_001267478.1:p.Thr293Ile
NM_001280550.2:c.791C>T	NP_001267479.1:p.Thr264Ile
NM_001280551.2:c.597C>T	NP_001267480.1:p.Tyr199=
NM_001280552.2:c.921C>T	NP_001267481.1:p.Tyr307=
NM_001280553.2:c.894C>T	NP_001267482.1:p.Tyr298=
NM_001280554.2:c.981C>T	NP_001267483.1:p.Tyr327=
NM_001280555.2:c.810C>T	NP_001267484.1:p.Tyr270=
NM_001280556.2:c.786C>T	NP_001267485.1:p.Tyr262=
NR_103999.2:n.1217C>T
NR_104000.2:n.1274C>T