Canonical Allele Identifier: CA1846703802
Community Standard Title: NM_016734.3(PAX5):c.547G= (p.Gly183=)
Gene: PAX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37002705C= , CM000671.2:g.37002705C= GRCh38
NC_000009.11:g.37002702C= , CM000671.1:g.37002702C= GRCh37
NC_000009.10:g.36992702C= NCBI36
NG_033894.1:g.36775G=

Transcript Alleles

HGVS Amino-acid Change
NM_016734.3:c.547G= MANE Select NP_057953.1:p.Gly183=
ENST00000358127.9:c.547G= MANE Select ENSP00000350844.4:p.Gly183=
NM_001280547.1:c.547G= NP_001267476.1:p.Gly183=
NM_001280547.2:c.547G= NP_001267476.1:p.Gly183=
NM_001280548.1:c.547G= NP_001267477.1:p.Gly183=
NM_001280548.2:c.547G= NP_001267477.1:p.Gly183=
NM_001280549.1:c.547G= NP_001267478.1:p.Gly183=
NM_001280549.2:c.547G= NP_001267478.1:p.Gly183=
NM_001280550.1:c.547G= NP_001267479.1:p.Gly183=
NM_001280550.2:c.547G= NP_001267479.1:p.Gly183=
NM_001280551.1:c.223G= NP_001267480.1:p.Gly75=
NM_001280551.2:c.223G= NP_001267480.1:p.Gly75=
NM_001280552.1:c.547G= NP_001267481.1:p.Gly183=
NM_001280552.2:c.547G= NP_001267481.1:p.Gly183=
NM_001280553.1:c.475+3768G= NP_001267482.1:n.475+3768G=
NM_001280553.2:c.475+3768G= NP_001267482.1:n.475+3768G=
NM_001280554.1:c.475+3768G= NP_001267483.1:n.475+3768G=
NM_001280554.2:c.475+3768G= NP_001267483.1:n.475+3768G=
NM_001280555.1:c.349G= NP_001267484.1:p.Gly117=
NM_001280555.2:c.349G= NP_001267484.1:p.Gly117=
NM_001280556.1:c.223G= NP_001267485.1:p.Gly75=
NM_001280556.2:c.223G= NP_001267485.1:p.Gly75=
NM_016734.2:c.547G= NP_057953.1:p.Gly183=
NR_103999.1:n.995G=
NR_103999.2:n.784G=
NR_104000.1:n.995G=
NR_104000.2:n.784G=
ENST00000358127.8:c.547G= ENSP00000350844.4:p.Gly183=
ENST00000377840.6:c.547G= ENSP00000367071.2:p.Gly183=
ENST00000377847.6:c.547G= ENSP00000367078.2:p.Gly183=
ENST00000377852.6:c.547G= ENSP00000367083.2:p.Gly183=
ENST00000377852.7:c.547G= ENSP00000367083.2:p.Gly183=
ENST00000377853.6:c.547G= ENSP00000367084.2:p.Gly183=
ENST00000414447.5:c.475+3768G= ENSP00000412188.1:n.475+3768G=
ENST00000446742.5:c.349G= ENSP00000404687.1:p.Gly117=
ENST00000520154.5:c.547G= ENSP00000429291.1:p.Gly183=
ENST00000520154.6:c.547G= ENSP00000429291.1:p.Gly183=
ENST00000520281.5:c.475+3768G= ENSP00000430773.1:n.475+3768G=
ENST00000522003.5:c.223G= ENSP00000429359.1:p.Gly75=
ENST00000522932.1:c.48G=
ENST00000523145.5:c.223G= ENSP00000429197.1:p.Gly75=
ENST00000523241.5:c.547G= ENSP00000429637.1:p.Gly183=
ENST00000523241.6:c.547G= ENSP00000429637.1:p.Gly183=
ENST00000523493.5:c.547G= ENSP00000431038.1:p.Gly183=
ENST00000651199.1:n.281G=
ENST00000651550.1:c.223G= ENSP00000498443.1:p.Gly75=
XM_005251481.3:c.544G= XP_005251538.1:p.Gly182=
XM_011517896.1:c.547G= XP_011516198.1:p.Gly183=
XM_011517897.1:c.544G= XP_011516199.1:p.Gly182=
XR_001746663.1:n.9C=
XR_001746664.1:n.9C=