Canonical Allele Identifier: CA66332039

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222220153C>T , CM000664.2:g.222220153C>T	GRCh38
NC_000002.11:g.223084872C>T , CM000664.1:g.223084872C>T	GRCh37
NC_000002.10:g.222793116C>T	NCBI36
NG_011632.1:g.83829G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_181458.4:c.1160G>A MANE Select	NP_852123.1:p.Gly387Asp
ENST00000392070.7:c.1160G>A MANE Select	ENSP00000375922.3:p.Gly387Asp
NM_001127366.2:c.1157G>A	NP_001120838.1:p.Gly386Asp
NM_001127366.3:c.1157G>A	NP_001120838.1:p.Gly386Asp
NM_181457.3:c.1160G>A	NP_852122.1:p.Gly387Asp
NM_181457.4:c.1160G>A	NP_852122.1:p.Gly387Asp
NM_181458.3:c.1160G>A	NP_852123.1:p.Gly387Asp
NM_181459.3:c.1160G>A	NP_852124.1:p.Gly387Asp
NM_181459.4:c.1160G>A	NP_852124.1:p.Gly387Asp
NM_181460.3:c.1160G>A	NP_852125.1:p.Gly387Asp
NM_181460.4:c.1160G>A	NP_852125.1:p.Gly387Asp
NM_181461.3:c.1160G>A	NP_852126.1:p.Gly387Asp
NM_181461.4:c.1160G>A	NP_852126.1:p.Gly387Asp
ENST00000336840.10:c.1160G>A	ENSP00000338767.5:p.Gly387Asp
ENST00000336840.11:c.1160G>A	ENSP00000338767.5:p.Gly387Asp
ENST00000344493.8:c.1160G>A	ENSP00000342092.4:p.Gly387Asp
ENST00000344493.9:c.1160G>A	ENSP00000342092.4:p.Gly387Asp
ENST00000350526.8:c.1160G>A	ENSP00000343052.4:p.Gly387Asp
ENST00000350526.9:c.1160G>A	ENSP00000343052.4:p.Gly387Asp
ENST00000392069.6:c.1160G>A	ENSP00000375921.2:p.Gly387Asp
ENST00000392070.6:c.1160G>A	ENSP00000375922.2:p.Gly387Asp
ENST00000409551.7:c.1157G>A	ENSP00000386750.3:p.Gly386Asp
ENST00000464706.5:n.584G>A
ENST00000464706.6:n.598G>A
ENST00000555548.1:n.391G>A
ENST00000644699.1:n.486G>A
ENST00000644937.1:n.432G>A
ENST00000646154.1:n.974G>A
XM_011511278.1:c.1304G>A	XP_011509580.1:p.Gly435Asp
XM_011511279.1:c.596G>A	XP_011509581.1:p.Gly199Asp
XR_001739903.1:n.240-243C>T