Canonical Allele Identifier: CA351116737

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221372G>A , CM000664.2:g.222221372G>A	GRCh38
NC_000002.11:g.223086091G>A , CM000664.1:g.223086091G>A	GRCh37
NC_000002.10:g.222794335G>A	NCBI36
NG_011632.1:g.82610C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181458.4:c.808C>T MANE Select	NP_852123.1:p.Arg270Cys
ENST00000392070.7:c.808C>T MANE Select	ENSP00000375922.3:p.Arg270Cys
NM_001127366.2:c.805C>T	NP_001120838.1:p.Arg269Cys
NM_001127366.3:c.805C>T	NP_001120838.1:p.Arg269Cys
NM_181457.3:c.808C>T	NP_852122.1:p.Arg270Cys
NM_181457.4:c.808C>T	NP_852122.1:p.Arg270Cys
NM_181458.3:c.808C>T	NP_852123.1:p.Arg270Cys
NM_181459.3:c.808C>T	NP_852124.1:p.Arg270Cys
NM_181459.4:c.808C>T	NP_852124.1:p.Arg270Cys
NM_181460.3:c.808C>T	NP_852125.1:p.Arg270Cys
NM_181460.4:c.808C>T	NP_852125.1:p.Arg270Cys
NM_181461.3:c.808C>T	NP_852126.1:p.Arg270Cys
NM_181461.4:c.808C>T	NP_852126.1:p.Arg270Cys
ENST00000336840.10:c.808C>T	ENSP00000338767.5:p.Arg270Cys
ENST00000336840.11:c.808C>T	ENSP00000338767.5:p.Arg270Cys
ENST00000344493.8:c.808C>T	ENSP00000342092.4:p.Arg270Cys
ENST00000344493.9:c.808C>T	ENSP00000342092.4:p.Arg270Cys
ENST00000350526.8:c.808C>T	ENSP00000343052.4:p.Arg270Cys
ENST00000350526.9:c.808C>T	ENSP00000343052.4:p.Arg270Cys
ENST00000392069.6:c.808C>T	ENSP00000375921.2:p.Arg270Cys
ENST00000392070.6:c.808C>T	ENSP00000375922.2:p.Arg270Cys
ENST00000409551.7:c.805C>T	ENSP00000386750.3:p.Arg269Cys
ENST00000464706.5:n.232C>T
ENST00000464706.6:n.246C>T
ENST00000555548.1:n.39C>T
ENST00000644699.1:n.134C>T
ENST00000644937.1:n.80C>T
ENST00000646154.1:n.622C>T
XM_011511278.1:c.952C>T	XP_011509580.1:p.Arg318Cys
XM_011511279.1:c.244C>T	XP_011509581.1:p.Arg82Cys