Canonical Allele Identifier: CA1330502686

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202008G= , CM000664.2:g.222202008G=	GRCh38
NC_000002.11:g.223066727G= , CM000664.1:g.223066727G=	GRCh37
NC_000002.10:g.222774971G=	NCBI36
NG_011632.1:g.101974C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-566C=	ENSP00000338767.5:n.1174-566C=
ENST00000344493.9:c.1174-566C=	ENSP00000342092.4:n.1174-566C=
ENST00000350526.9:c.1356C=	ENSP00000343052.4:p.Thr452=
ENST00000392070.7:c.1356C= MANE Select	ENSP00000375922.3:p.Thr452=
ENST00000464706.6:n.794C=
ENST00000644699.1:n.682C=
ENST00000646154.1:n.1170C=
ENST00000336840.10:c.1174-566C=	ENSP00000338767.5:n.1174-566C=
ENST00000344493.8:c.1174-566C=	ENSP00000342092.4:n.1174-566C=
ENST00000350526.8:c.1356C=	ENSP00000343052.4:p.Thr452=
ENST00000392069.6:c.1356C=	ENSP00000375921.2:p.Thr452=
ENST00000392070.6:c.1356C=	ENSP00000375922.2:p.Thr452=
ENST00000409551.7:c.1353C=	ENSP00000386750.3:p.Thr451=
ENST00000464706.5:n.780C=
NM_001127366.2:c.1353C=	NP_001120838.1:p.Thr451=
NM_181457.3:c.1356C=	NP_852122.1:p.Thr452=
NM_181458.3:c.1356C=	NP_852123.1:p.Thr452=
NM_181459.3:c.1356C=	NP_852124.1:p.Thr452=
NM_181460.3:c.1174-566C=	NP_852125.1:n.1174-566C=
NM_181461.3:c.1174-566C=	NP_852126.1:n.1174-566C=
XM_011511278.1:c.1500C=	XP_011509580.1:p.Thr500=
XM_011511279.1:c.792C=	XP_011509581.1:p.Thr264=
NM_001127366.3:c.1353C=	NP_001120838.1:p.Thr451=
NM_181457.4:c.1356C=	NP_852122.1:p.Thr452=
NM_181458.4:c.1356C= MANE Select	NP_852123.1:p.Thr452=
NM_181459.4:c.1356C=	NP_852124.1:p.Thr452=
NM_181460.4:c.1174-566C=	NP_852125.1:n.1174-566C=
NM_181461.4:c.1174-566C=	NP_852126.1:n.1174-566C=