Canonical Allele Identifier: CA1330502684
Gene: PAX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222202007A= , CM000664.2:g.222202007A= GRCh38
NC_000002.11:g.223066726A= , CM000664.1:g.223066726A= GRCh37
NC_000002.10:g.222774970A= NCBI36
NG_011632.1:g.101975T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336840.11:c.1174-565T= ENSP00000338767.5:n.1174-565T=
ENST00000344493.9:c.1174-565T= ENSP00000342092.4:n.1174-565T=
ENST00000350526.9:c.1357T= ENSP00000343052.4:p.Tyr453=
ENST00000392070.7:c.1357T= MANE Select ENSP00000375922.3:p.Tyr453=
ENST00000464706.6:n.795T=
ENST00000644699.1:n.683T=
ENST00000646154.1:n.1171T=
ENST00000336840.10:c.1174-565T= ENSP00000338767.5:n.1174-565T=
ENST00000344493.8:c.1174-565T= ENSP00000342092.4:n.1174-565T=
ENST00000350526.8:c.1357T= ENSP00000343052.4:p.Tyr453=
ENST00000392069.6:c.1357T= ENSP00000375921.2:p.Tyr453=
ENST00000392070.6:c.1357T= ENSP00000375922.2:p.Tyr453=
ENST00000409551.7:c.1354T= ENSP00000386750.3:p.Tyr452=
ENST00000464706.5:n.781T=
NM_001127366.2:c.1354T= NP_001120838.1:p.Tyr452=
NM_181457.3:c.1357T= NP_852122.1:p.Tyr453=
NM_181458.3:c.1357T= NP_852123.1:p.Tyr453=
NM_181459.3:c.1357T= NP_852124.1:p.Tyr453=
NM_181460.3:c.1174-565T= NP_852125.1:n.1174-565T=
NM_181461.3:c.1174-565T= NP_852126.1:n.1174-565T=
XM_011511278.1:c.1501T= XP_011509580.1:p.Tyr501=
XM_011511279.1:c.793T= XP_011509581.1:p.Tyr265=
NM_001127366.3:c.1354T= NP_001120838.1:p.Tyr452=
NM_181457.4:c.1357T= NP_852122.1:p.Tyr453=
NM_181458.4:c.1357T= MANE Select NP_852123.1:p.Tyr453=
NM_181459.4:c.1357T= NP_852124.1:p.Tyr453=
NM_181460.4:c.1174-565T= NP_852125.1:n.1174-565T=
NM_181461.4:c.1174-565T= NP_852126.1:n.1174-565T=