Canonical Allele Identifier: CA373486913
Gene: PAX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36966685G>A , CM000671.2:g.36966685G>A GRCh38
NC_000009.11:g.36966682G>A , CM000671.1:g.36966682G>A GRCh37
NC_000009.10:g.36956682G>A NCBI36
NG_033894.1:g.72795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358127.9:c.644C>T MANE Select ENSP00000350844.4:p.Pro215Leu
ENST00000377852.7:c.644C>T ENSP00000367083.2:p.Pro215Leu
ENST00000520154.6:c.644C>T ENSP00000429291.1:p.Pro215Leu
ENST00000523241.6:c.644C>T ENSP00000429637.1:p.Pro215Leu
ENST00000651550.1:c.320C>T ENSP00000498443.1:p.Pro107Leu
ENST00000358127.8:c.644C>T ENSP00000350844.4:p.Pro215Leu
ENST00000377840.6:c.644C>T ENSP00000367071.2:p.Pro215Leu
ENST00000377847.6:c.644C>T ENSP00000367078.2:p.Pro215Leu
ENST00000377852.6:c.644C>T ENSP00000367083.2:p.Pro215Leu
ENST00000377853.6:c.644C>T ENSP00000367084.2:p.Pro215Leu
ENST00000414447.5:c.515C>T ENSP00000412188.1:p.Pro172Leu
ENST00000446742.5:c.446C>T ENSP00000404687.1:p.Pro149Leu
ENST00000520154.5:c.644C>T ENSP00000429291.1:p.Pro215Leu
ENST00000520281.5:c.515C>T ENSP00000430773.1:p.Pro172Leu
ENST00000522003.5:c.320C>T ENSP00000429359.1:p.Pro107Leu
ENST00000522932.1:c.105+35963C>T
ENST00000523145.5:c.320C>T ENSP00000429197.1:p.Pro107Leu
ENST00000523241.5:c.644C>T ENSP00000429637.1:p.Pro215Leu
ENST00000523493.5:c.644C>T ENSP00000431038.1:p.Pro215Leu
ENST00000524340.5:c.68C>T ENSP00000429404.1:p.Pro23Leu
NM_001280547.1:c.644C>T NP_001267476.1:p.Pro215Leu
NM_001280548.1:c.644C>T NP_001267477.1:p.Pro215Leu
NM_001280549.1:c.644C>T NP_001267478.1:p.Pro215Leu
NM_001280550.1:c.644C>T NP_001267479.1:p.Pro215Leu
NM_001280551.1:c.320C>T NP_001267480.1:p.Pro107Leu
NM_001280552.1:c.644C>T NP_001267481.1:p.Pro215Leu
NM_001280553.1:c.515C>T NP_001267482.1:p.Pro172Leu
NM_001280554.1:c.515C>T NP_001267483.1:p.Pro172Leu
NM_001280555.1:c.446C>T NP_001267484.1:p.Pro149Leu
NM_001280556.1:c.320C>T NP_001267485.1:p.Pro107Leu
NM_016734.2:c.644C>T NP_057953.1:p.Pro215Leu
NR_103999.1:n.1092C>T
NR_104000.1:n.1092C>T
XM_005251481.3:c.641C>T XP_005251538.1:p.Pro214Leu
XM_011517896.1:c.644C>T XP_011516198.1:p.Pro215Leu
XM_011517897.1:c.641C>T XP_011516199.1:p.Pro214Leu
NM_016734.3:c.644C>T MANE Select NP_057953.1:p.Pro215Leu
NM_001280547.2:c.644C>T NP_001267476.1:p.Pro215Leu
NM_001280548.2:c.644C>T NP_001267477.1:p.Pro215Leu
NM_001280549.2:c.644C>T NP_001267478.1:p.Pro215Leu
NM_001280550.2:c.644C>T NP_001267479.1:p.Pro215Leu
NM_001280551.2:c.320C>T NP_001267480.1:p.Pro107Leu
NM_001280552.2:c.644C>T NP_001267481.1:p.Pro215Leu
NM_001280553.2:c.515C>T NP_001267482.1:p.Pro172Leu
NM_001280554.2:c.515C>T NP_001267483.1:p.Pro172Leu
NM_001280555.2:c.446C>T NP_001267484.1:p.Pro149Leu
NM_001280556.2:c.320C>T NP_001267485.1:p.Pro107Leu
NR_103999.2:n.881C>T
NR_104000.2:n.881C>T