Canonical Allele Identifier: CA11264570
Gene: PAX3 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs12995399

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222272282T>C , CM000664.2:g.222272282T>C GRCh38
NC_000002.11:g.223137001T>C , CM000664.1:g.223137001T>C GRCh37
NC_000002.10:g.222845245T>C NCBI36
NG_011632.1:g.31700A>G

Transcript Alleles

HGVS Amino-acid change
NM_001127366.2:c.583+21885A>G VV NP_001120838.1:p.=
NM_181457.3:c.586+21885A>G VV NP_852122.1:p.=
NM_181458.3:c.586+21885A>G VV NP_852123.1:p.=
NM_181459.3:c.586+21885A>G VV NP_852124.1:p.=
NM_181460.3:c.586+21885A>G VV NP_852125.1:p.=
NM_181461.3:c.586+21885A>G VV NP_852126.1:p.=
XM_011511278.1:c.730+21885A>G XP_011509580.1:p.=
XM_011511280.1:c.731-7157A>G XP_011509582.1:p.=
ENST00000336840.10:c.586+21885A>G ENSP00000338767.5:p.=
ENST00000344493.8:c.586+21885A>G ENSP00000342092.4:p.=
ENST00000350526.8:c.586+21885A>G ENSP00000343052.4:p.=
ENST00000392069.6:c.586+21885A>G ENSP00000375921.2:p.=
ENST00000392070.6:c.586+21885A>G ENSP00000375922.2:p.=
ENST00000409551.7:c.583+21885A>G ENSP00000386750.3:p.=