Canonical Allele Identifier: CA431575547

Gene: PAX3

Linked Data

• COSMIC: COSM4091870 ; COSM4907789
• MyVariant Identifiers: chr2:g.223086050C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221331C>T , CM000664.2:g.222221331C>T	GRCh38
NC_000002.11:g.223086050C>T , CM000664.1:g.223086050C>T	GRCh37
NC_000002.10:g.222794294C>T	NCBI36
NG_011632.1:g.82651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.849G>A	ENSP00000338767.5:p.Leu283=
ENST00000344493.9:c.849G>A	ENSP00000342092.4:p.Leu283=
ENST00000350526.9:c.849G>A	ENSP00000343052.4:p.Leu283=
ENST00000392070.7:c.849G>A MANE Select	ENSP00000375922.3:p.Leu283=
ENST00000464706.6:n.287G>A
ENST00000644699.1:n.175G>A
ENST00000644937.1:n.121G>A
ENST00000646154.1:n.663G>A
ENST00000336840.10:c.849G>A	ENSP00000338767.5:p.Leu283=
ENST00000344493.8:c.849G>A	ENSP00000342092.4:p.Leu283=
ENST00000350526.8:c.849G>A	ENSP00000343052.4:p.Leu283=
ENST00000392069.6:c.849G>A	ENSP00000375921.2:p.Leu283=
ENST00000392070.6:c.849G>A	ENSP00000375922.2:p.Leu283=
ENST00000409551.7:c.846G>A	ENSP00000386750.3:p.Leu282=
ENST00000464706.5:n.273G>A
ENST00000555548.1:n.80G>A
NM_001127366.2:c.846G>A	NP_001120838.1:p.Leu282=
NM_181457.3:c.849G>A	NP_852122.1:p.Leu283=
NM_181458.3:c.849G>A	NP_852123.1:p.Leu283=
NM_181459.3:c.849G>A	NP_852124.1:p.Leu283=
NM_181460.3:c.849G>A	NP_852125.1:p.Leu283=
NM_181461.3:c.849G>A	NP_852126.1:p.Leu283=
XM_011511278.1:c.993G>A	XP_011509580.1:p.Leu331=
XM_011511279.1:c.285G>A	XP_011509581.1:p.Leu95=
NM_001127366.3:c.846G>A	NP_001120838.1:p.Leu282=
NM_181457.4:c.849G>A	NP_852122.1:p.Leu283=
NM_181458.4:c.849G>A MANE Select	NP_852123.1:p.Leu283=
NM_181459.4:c.849G>A	NP_852124.1:p.Leu283=
NM_181460.4:c.849G>A	NP_852125.1:p.Leu283=
NM_181461.4:c.849G>A	NP_852126.1:p.Leu283=