Canonical Allele Identifier: CA1330502532

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201892G= , CM000664.2:g.222201892G=	GRCh38
NC_000002.11:g.223066611G= , CM000664.1:g.223066611G=	GRCh37
NC_000002.10:g.222774855G=	NCBI36
NG_011632.1:g.102090C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-450C=	ENSP00000338767.5:n.1174-450C=
ENST00000344493.9:c.1174-450C=	ENSP00000342092.4:n.1174-450C=
ENST00000350526.9:c.*32C=	ENSP00000343052.4:n.*32C=
ENST00000392070.7:c.1420+52C= MANE Select	ENSP00000375922.3:n.1420+52C=
ENST00000464706.6:n.858+52C=
ENST00000644699.1:n.746+52C=
ENST00000646154.1:n.1234+52C=
ENST00000336840.10:c.1174-450C=	ENSP00000338767.5:n.1174-450C=
ENST00000344493.8:c.1174-450C=	ENSP00000342092.4:n.1174-450C=
ENST00000350526.8:c.*32C=	ENSP00000343052.4:n.*32C=
ENST00000392069.6:c.1420+52C=	ENSP00000375921.2:n.1420+52C=
ENST00000392070.6:c.1420+52C=	ENSP00000375922.2:n.1420+52C=
ENST00000409551.7:c.1417+52C=	ENSP00000386750.3:n.1417+52C=
NM_001127366.2:c.1417+52C=	NP_001120838.1:n.1417+52C=
NM_181457.3:c.*32C=	NP_852122.1:n.*32C=
NM_181458.3:c.1420+52C=	NP_852123.1:n.1420+52C=
NM_181459.3:c.1420+52C=	NP_852124.1:n.1420+52C=
NM_181460.3:c.1174-450C=	NP_852125.1:n.1174-450C=
NM_181461.3:c.1174-450C=	NP_852126.1:n.1174-450C=
XM_011511278.1:c.1564+52C=	XP_011509580.1:n.1564+52C=
XM_011511279.1:c.856+52C=	XP_011509581.1:n.856+52C=
NM_001127366.3:c.1417+52C=	NP_001120838.1:n.1417+52C=
NM_181457.4:c.*32C=	NP_852122.1:n.*32C=
NM_181458.4:c.1420+52C= MANE Select	NP_852123.1:n.1420+52C=
NM_181459.4:c.1420+52C=	NP_852124.1:n.1420+52C=
NM_181460.4:c.1174-450C=	NP_852125.1:n.1174-450C=
NM_181461.4:c.1174-450C=	NP_852126.1:n.1174-450C=