Canonical Allele Identifier: CA2135523

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222220332G>A , CM000664.2:g.222220332G>A	GRCh38
NC_000002.11:g.223085051G>A , CM000664.1:g.223085051G>A	GRCh37
NC_000002.10:g.222793295G>A	NCBI36
NG_011632.1:g.83650C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181458.4:c.981C>T MANE Select	NP_852123.1:p.Thr327=
ENST00000392070.7:c.981C>T MANE Select	ENSP00000375922.3:p.Thr327=
NM_001127366.2:c.978C>T	NP_001120838.1:p.Thr326=
NM_001127366.3:c.978C>T	NP_001120838.1:p.Thr326=
NM_181457.3:c.981C>T	NP_852122.1:p.Thr327=
NM_181457.4:c.981C>T	NP_852122.1:p.Thr327=
NM_181458.3:c.981C>T	NP_852123.1:p.Thr327=
NM_181459.3:c.981C>T	NP_852124.1:p.Thr327=
NM_181459.4:c.981C>T	NP_852124.1:p.Thr327=
NM_181460.3:c.981C>T	NP_852125.1:p.Thr327=
NM_181460.4:c.981C>T	NP_852125.1:p.Thr327=
NM_181461.3:c.981C>T	NP_852126.1:p.Thr327=
NM_181461.4:c.981C>T	NP_852126.1:p.Thr327=
ENST00000336840.10:c.981C>T	ENSP00000338767.5:p.Thr327=
ENST00000336840.11:c.981C>T	ENSP00000338767.5:p.Thr327=
ENST00000344493.8:c.981C>T	ENSP00000342092.4:p.Thr327=
ENST00000344493.9:c.981C>T	ENSP00000342092.4:p.Thr327=
ENST00000350526.8:c.981C>T	ENSP00000343052.4:p.Thr327=
ENST00000350526.9:c.981C>T	ENSP00000343052.4:p.Thr327=
ENST00000392069.6:c.981C>T	ENSP00000375921.2:p.Thr327=
ENST00000392070.6:c.981C>T	ENSP00000375922.2:p.Thr327=
ENST00000409551.7:c.978C>T	ENSP00000386750.3:p.Thr326=
ENST00000464706.5:n.405C>T
ENST00000464706.6:n.419C>T
ENST00000555548.1:n.212C>T
ENST00000644699.1:n.307C>T
ENST00000644937.1:n.253C>T
ENST00000646154.1:n.795C>T
XM_011511278.1:c.1125C>T	XP_011509580.1:p.Thr375=
XM_011511279.1:c.417C>T	XP_011509581.1:p.Thr139=
XR_001739903.1:n.240-64G>A