Canonical Allele Identifier: CA431575587
Gene: PAX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222232086G>T , CM000664.2:g.222232086G>T GRCh38
NC_000002.11:g.223096805G>T , CM000664.1:g.223096805G>T GRCh37
NC_000002.10:g.222805049G>T NCBI36
NG_011632.1:g.71896C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336840.11:c.784C>A ENSP00000338767.5:p.Arg262=
ENST00000344493.9:c.784C>A ENSP00000342092.4:p.Arg262=
ENST00000350526.9:c.784C>A ENSP00000343052.4:p.Arg262=
ENST00000392070.7:c.784C>A MANE Select ENSP00000375922.3:p.Arg262=
ENST00000646154.1:n.598C>A
ENST00000336840.10:c.784C>A ENSP00000338767.5:p.Arg262=
ENST00000344493.8:c.784C>A ENSP00000342092.4:p.Arg262=
ENST00000350526.8:c.784C>A ENSP00000343052.4:p.Arg262=
ENST00000392069.6:c.784C>A ENSP00000375921.2:p.Arg262=
ENST00000392070.6:c.784C>A ENSP00000375922.2:p.Arg262=
ENST00000409551.7:c.781C>A ENSP00000386750.3:p.Arg261=
NM_001127366.2:c.781C>A NP_001120838.1:p.Arg261=
NM_181457.3:c.784C>A NP_852122.1:p.Arg262=
NM_181458.3:c.784C>A NP_852123.1:p.Arg262=
NM_181459.3:c.784C>A NP_852124.1:p.Arg262=
NM_181460.3:c.784C>A NP_852125.1:p.Arg262=
NM_181461.3:c.784C>A NP_852126.1:p.Arg262=
XM_011511278.1:c.928C>A XP_011509580.1:p.Arg310=
XM_011511279.1:c.220C>A XP_011509581.1:p.Arg74=
XR_923945.1:n.287+10116G>T
XR_923946.1:n.362G>T
NM_001127366.3:c.781C>A NP_001120838.1:p.Arg261=
NM_181457.4:c.784C>A NP_852122.1:p.Arg262=
NM_181458.4:c.784C>A MANE Select NP_852123.1:p.Arg262=
NM_181459.4:c.784C>A NP_852124.1:p.Arg262=
NM_181460.4:c.784C>A NP_852125.1:p.Arg262=
NM_181461.4:c.784C>A NP_852126.1:p.Arg262=