Canonical Allele Identifier: CA373487766

Gene: PAX5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37015019G>T , CM000671.2:g.37015019G>T	GRCh38
NC_000009.11:g.37015016G>T , CM000671.1:g.37015016G>T	GRCh37
NC_000009.10:g.37005016G>T	NCBI36
NG_033894.1:g.24461C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016734.3:c.388C>A MANE Select	NP_057953.1:p.Pro130Thr
ENST00000358127.9:c.388C>A MANE Select	ENSP00000350844.4:p.Pro130Thr
NM_001280547.1:c.388C>A	NP_001267476.1:p.Pro130Thr
NM_001280547.2:c.388C>A	NP_001267476.1:p.Pro130Thr
NM_001280548.1:c.388C>A	NP_001267477.1:p.Pro130Thr
NM_001280548.2:c.388C>A	NP_001267477.1:p.Pro130Thr
NM_001280549.1:c.388C>A	NP_001267478.1:p.Pro130Thr
NM_001280549.2:c.388C>A	NP_001267478.1:p.Pro130Thr
NM_001280550.1:c.388C>A	NP_001267479.1:p.Pro130Thr
NM_001280550.2:c.388C>A	NP_001267479.1:p.Pro130Thr
NM_001280551.1:c.64C>A	NP_001267480.1:p.Pro22Thr
NM_001280551.2:c.64C>A	NP_001267480.1:p.Pro22Thr
NM_001280552.1:c.388C>A	NP_001267481.1:p.Pro130Thr
NM_001280552.2:c.388C>A	NP_001267481.1:p.Pro130Thr
NM_001280553.1:c.388C>A	NP_001267482.1:p.Pro130Thr
NM_001280553.2:c.388C>A	NP_001267482.1:p.Pro130Thr
NM_001280554.1:c.388C>A	NP_001267483.1:p.Pro130Thr
NM_001280554.2:c.388C>A	NP_001267483.1:p.Pro130Thr
NM_001280555.1:c.212+5617C>A	NP_001267484.1:n.212+5617C>A
NM_001280555.2:c.212+5617C>A	NP_001267484.1:n.212+5617C>A
NM_001280556.1:c.64C>A	NP_001267485.1:p.Pro22Thr
NM_001280556.2:c.64C>A	NP_001267485.1:p.Pro22Thr
NM_016734.2:c.388C>A	NP_057953.1:p.Pro130Thr
NR_103999.1:n.836C>A
NR_103999.2:n.625C>A
NR_104000.1:n.836C>A
NR_104000.2:n.625C>A
ENST00000358127.8:c.388C>A	ENSP00000350844.4:p.Pro130Thr
ENST00000377840.6:c.388C>A	ENSP00000367071.2:p.Pro130Thr
ENST00000377847.6:c.388C>A	ENSP00000367078.2:p.Pro130Thr
ENST00000377852.6:c.388C>A	ENSP00000367083.2:p.Pro130Thr
ENST00000377852.7:c.388C>A	ENSP00000367083.2:p.Pro130Thr
ENST00000377853.6:c.388C>A	ENSP00000367084.2:p.Pro130Thr
ENST00000414447.5:c.388C>A	ENSP00000412188.1:p.Pro130Thr
ENST00000446742.5:c.212+5617C>A	ENSP00000404687.1:n.212+5617C>A
ENST00000520154.5:c.388C>A	ENSP00000429291.1:p.Pro130Thr
ENST00000520154.6:c.388C>A	ENSP00000429291.1:p.Pro130Thr
ENST00000520281.5:c.388C>A	ENSP00000430773.1:p.Pro130Thr
ENST00000522003.5:c.64C>A	ENSP00000429359.1:p.Pro22Thr
ENST00000523145.5:c.64C>A	ENSP00000429197.1:p.Pro22Thr
ENST00000523241.5:c.388C>A	ENSP00000429637.1:p.Pro130Thr
ENST00000523241.6:c.388C>A	ENSP00000429637.1:p.Pro130Thr
ENST00000523493.5:c.388C>A	ENSP00000431038.1:p.Pro130Thr
ENST00000651199.1:n.209+5617C>A
ENST00000651550.1:c.64C>A	ENSP00000498443.1:p.Pro22Thr
XM_005251481.3:c.385C>A	XP_005251538.1:p.Pro129Thr
XM_011517896.1:c.388C>A	XP_011516198.1:p.Pro130Thr
XM_011517897.1:c.385C>A	XP_011516199.1:p.Pro129Thr