Canonical Allele Identifier: CA1330502851

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202188T= , CM000664.2:g.222202188T=	GRCh38
NC_000002.11:g.223066907T= , CM000664.1:g.223066907T=	GRCh37
NC_000002.10:g.222775151T=	NCBI36
NG_011632.1:g.101794A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-746A=	ENSP00000338767.5:n.1174-746A=
ENST00000344493.9:c.1174-746A=	ENSP00000342092.4:n.1174-746A=
ENST00000350526.9:c.1176A=	ENSP00000343052.4:p.Val392=
ENST00000392070.7:c.1176A= MANE Select	ENSP00000375922.3:p.Val392=
ENST00000464706.6:n.614A=
ENST00000644699.1:n.502A=
ENST00000646154.1:n.990A=
ENST00000336840.10:c.1174-746A=	ENSP00000338767.5:n.1174-746A=
ENST00000344493.8:c.1174-746A=	ENSP00000342092.4:n.1174-746A=
ENST00000350526.8:c.1176A=	ENSP00000343052.4:p.Val392=
ENST00000392069.6:c.1176A=	ENSP00000375921.2:p.Val392=
ENST00000392070.6:c.1176A=	ENSP00000375922.2:p.Val392=
ENST00000409551.7:c.1173A=	ENSP00000386750.3:p.Val391=
ENST00000464706.5:n.600A=
ENST00000555548.1:n.407A=
NM_001127366.2:c.1173A=	NP_001120838.1:p.Val391=
NM_181457.3:c.1176A=	NP_852122.1:p.Val392=
NM_181458.3:c.1176A=	NP_852123.1:p.Val392=
NM_181459.3:c.1176A=	NP_852124.1:p.Val392=
NM_181460.3:c.1174-746A=	NP_852125.1:n.1174-746A=
NM_181461.3:c.1174-746A=	NP_852126.1:n.1174-746A=
XM_011511278.1:c.1320A=	XP_011509580.1:p.Val440=
XM_011511279.1:c.612A=	XP_011509581.1:p.Val204=
NM_001127366.3:c.1173A=	NP_001120838.1:p.Val391=
NM_181457.4:c.1176A=	NP_852122.1:p.Val392=
NM_181458.4:c.1176A= MANE Select	NP_852123.1:p.Val392=
NM_181459.4:c.1176A=	NP_852124.1:p.Val392=
NM_181460.4:c.1174-746A=	NP_852125.1:n.1174-746A=
NM_181461.4:c.1174-746A=	NP_852126.1:n.1174-746A=