Canonical Allele Identifier: CA156462

Gene: PAX5

Linked Data

• ClinVar Variation Id: 133372
• ClinVar RCV Id: RCV000119873
• dbSNP Id: rs587777963
• ExAC: 9:36840542 G / A
• gnomAD v2: 9-36840542-G-A
• gnomAD v3: 9-36840545-G-A
• gnomAD v4: 9-36840545-G-A
• MyVariant Identifiers: chr9:g.36840542G>A (hg19) ; chr9:g.36840545G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36840545G>A , CM000671.2:g.36840545G>A	GRCh38
NC_000009.11:g.36840542G>A , CM000671.1:g.36840542G>A	GRCh37
NC_000009.10:g.36830542G>A	NCBI36
NG_033894.1:g.198935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358127.9:c.*15C>T MANE Select	ENSP00000350844.4:n.*15C>T
ENST00000377852.7:c.*15C>T	ENSP00000367083.2:n.*15C>T
ENST00000520154.6:c.872C>T	ENSP00000429291.1:p.Ala291Val
ENST00000523241.6:c.959C>T	ENSP00000429637.1:p.Ala320Val
ENST00000651550.1:c.*15C>T	ENSP00000498443.1:n.*15C>T
ENST00000358127.8:c.*15C>T	ENSP00000350844.4:n.*15C>T
ENST00000377840.6:c.*194C>T	ENSP00000367071.2:n.*194C>T
ENST00000377852.6:c.*15C>T	ENSP00000367083.2:n.*15C>T
ENST00000377853.6:c.*15C>T	ENSP00000367084.2:n.*15C>T
ENST00000520154.5:c.872C>T	ENSP00000429291.1:p.Ala291Val
ENST00000523241.5:c.959C>T	ENSP00000429637.1:p.Ala320Val
NM_001280547.1:c.*15C>T	NP_001267476.1:n.*15C>T
NM_001280548.1:c.*15C>T	NP_001267477.1:n.*15C>T
NM_001280549.1:c.959C>T	NP_001267478.1:p.Ala320Val
NM_001280550.1:c.872C>T	NP_001267479.1:p.Ala291Val
NM_001280551.1:c.*15C>T	NP_001267480.1:n.*15C>T
NM_001280552.1:c.*15C>T	NP_001267481.1:n.*15C>T
NM_001280553.1:c.*15C>T	NP_001267482.1:n.*15C>T
NM_001280554.1:c.*15C>T	NP_001267483.1:n.*15C>T
NM_001280555.1:c.*15C>T	NP_001267484.1:n.*15C>T
NM_001280556.1:c.*15C>T	NP_001267485.1:n.*15C>T
NM_016734.2:c.*15C>T	NP_057953.1:n.*15C>T
NR_103999.1:n.1509C>T
NR_104000.1:n.1566C>T
XM_005251481.3:c.*15C>T	XP_005251538.1:n.*15C>T
XM_011517896.1:c.*15C>T	XP_011516198.1:n.*15C>T
XM_011517897.1:c.*15C>T	XP_011516199.1:n.*15C>T
NM_016734.3:c.*15C>T MANE Select	NP_057953.1:n.*15C>T
NM_001280547.2:c.*15C>T	NP_001267476.1:n.*15C>T
NM_001280548.2:c.*15C>T	NP_001267477.1:n.*15C>T
NM_001280549.2:c.959C>T	NP_001267478.1:p.Ala320Val
NM_001280550.2:c.872C>T	NP_001267479.1:p.Ala291Val
NM_001280551.2:c.*15C>T	NP_001267480.1:n.*15C>T
NM_001280552.2:c.*15C>T	NP_001267481.1:n.*15C>T
NM_001280553.2:c.*15C>T	NP_001267482.1:n.*15C>T
NM_001280554.2:c.*15C>T	NP_001267483.1:n.*15C>T
NM_001280555.2:c.*15C>T	NP_001267484.1:n.*15C>T
NM_001280556.2:c.*15C>T	NP_001267485.1:n.*15C>T
NR_103999.2:n.1298C>T
NR_104000.2:n.1355C>T