Canonical Allele Identifier: CA1330516239

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232176C= , CM000664.2:g.222232176C=	GRCh38
NC_000002.11:g.223096895C= , CM000664.1:g.223096895C=	GRCh37
NC_000002.10:g.222805139C=	NCBI36
NG_011632.1:g.71806G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.694G=	ENSP00000338767.5:p.Glu232=
ENST00000344493.9:c.694G=	ENSP00000342092.4:p.Glu232=
ENST00000350526.9:c.694G=	ENSP00000343052.4:p.Glu232=
ENST00000392070.7:c.694G= MANE Select	ENSP00000375922.3:p.Glu232=
ENST00000646154.1:n.508G=
ENST00000336840.10:c.694G=	ENSP00000338767.5:p.Glu232=
ENST00000344493.8:c.694G=	ENSP00000342092.4:p.Glu232=
ENST00000350526.8:c.694G=	ENSP00000343052.4:p.Glu232=
ENST00000392069.6:c.694G=	ENSP00000375921.2:p.Glu232=
ENST00000392070.6:c.694G=	ENSP00000375922.2:p.Glu232=
ENST00000409551.7:c.691G=	ENSP00000386750.3:p.Glu231=
NM_001127366.2:c.691G=	NP_001120838.1:p.Glu231=
NM_181457.3:c.694G=	NP_852122.1:p.Glu232=
NM_181458.3:c.694G=	NP_852123.1:p.Glu232=
NM_181459.3:c.694G=	NP_852124.1:p.Glu232=
NM_181460.3:c.694G=	NP_852125.1:p.Glu232=
NM_181461.3:c.694G=	NP_852126.1:p.Glu232=
XM_011511278.1:c.838G=	XP_011509580.1:p.Glu280=
XM_011511279.1:c.130G=	XP_011509581.1:p.Glu44=
XR_923945.1:n.287+10206C=
NM_001127366.3:c.691G=	NP_001120838.1:p.Glu231=
NM_181457.4:c.694G=	NP_852122.1:p.Glu232=
NM_181458.4:c.694G= MANE Select	NP_852123.1:p.Glu232=
NM_181459.4:c.694G=	NP_852124.1:p.Glu232=
NM_181460.4:c.694G=	NP_852125.1:p.Glu232=
NM_181461.4:c.694G=	NP_852126.1:p.Glu232=