Canonical Allele Identifier: CA259837

Gene: PAX3

Linked Data

• ClinVar Variation Id: 30595
• ClinVar RCV Id: RCV000023560
• dbSNP Id: rs387906947
• MyVariant Identifiers: chr2:g.223161780G>C (hg19) ; chr2:g.222297061G>C (hg38)
• PubMed: PMID:20478267 ; PMID:21965087

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222297061G>C , CM000664.2:g.222297061G>C	GRCh38
NC_000002.11:g.223161780G>C , CM000664.1:g.223161780G>C	GRCh37
NC_000002.10:g.222870024G>C	NCBI36
NG_011632.1:g.6921C>G
NG_021186.1:g.3915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.238C>G	ENSP00000258387.5:p.His80Asp
ENST00000336840.11:c.238C>G	ENSP00000338767.5:p.His80Asp
ENST00000344493.9:c.238C>G	ENSP00000342092.4:p.His80Asp
ENST00000350526.9:c.238C>G	ENSP00000343052.4:p.His80Asp
ENST00000392070.7:c.238C>G MANE Select	ENSP00000375922.3:p.His80Asp
ENST00000647467.1:n.619C>G
ENST00000258387.5:c.238C>G	ENSP00000258387.5:p.His80Asp
ENST00000336840.10:c.238C>G	ENSP00000338767.5:p.His80Asp
ENST00000344493.8:c.238C>G	ENSP00000342092.4:p.His80Asp
ENST00000350526.8:c.238C>G	ENSP00000343052.4:p.His80Asp
ENST00000392069.6:c.238C>G	ENSP00000375921.2:p.His80Asp
ENST00000392070.6:c.238C>G	ENSP00000375922.2:p.His80Asp
ENST00000409551.7:c.238C>G	ENSP00000386750.3:p.His80Asp
ENST00000409828.7:c.238C>G	ENSP00000386817.3:p.His80Asp
NM_000438.5:c.238C>G	NP_000429.2:p.His80Asp
NM_001127366.2:c.238C>G	NP_001120838.1:p.His80Asp
NM_013942.4:c.238C>G	NP_039230.1:p.His80Asp
NM_181457.3:c.238C>G	NP_852122.1:p.His80Asp
NM_181458.3:c.238C>G	NP_852123.1:p.His80Asp
NM_181459.3:c.238C>G	NP_852124.1:p.His80Asp
NM_181460.3:c.238C>G	NP_852125.1:p.His80Asp
NM_181461.3:c.238C>G	NP_852126.1:p.His80Asp
XM_011511278.1:c.382C>G	XP_011509580.1:p.His128Asp
XM_011511280.1:c.382C>G	XP_011509582.1:p.His128Asp
XM_011511281.1:c.382C>G	XP_011509583.1:p.His128Asp
NM_000438.6:c.238C>G	NP_000429.2:p.His80Asp
NM_001127366.3:c.238C>G	NP_001120838.1:p.His80Asp
NM_013942.5:c.238C>G	NP_039230.1:p.His80Asp
NM_181457.4:c.238C>G	NP_852122.1:p.His80Asp
NM_181458.4:c.238C>G MANE Select	NP_852123.1:p.His80Asp
NM_181459.4:c.238C>G	NP_852124.1:p.His80Asp
NM_181460.4:c.238C>G	NP_852125.1:p.His80Asp
NM_181461.4:c.238C>G	NP_852126.1:p.His80Asp