Canonical Allele Identifier: CA351115219

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201233G>A , CM000664.2:g.222201233G>A	GRCh38
NC_000002.11:g.223065952G>A , CM000664.1:g.223065952G>A	GRCh37
NC_000002.10:g.222774196G>A	NCBI36
NG_011632.1:g.102749C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181458.4:c.*175C>T MANE Select	NP_852123.1:n.*175C>T
ENST00000392070.7:c.*175C>T MANE Select	ENSP00000375922.3:n.*175C>T
NM_001127366.2:c.*175C>T	NP_001120838.1:n.*175C>T
NM_001127366.3:c.*175C>T	NP_001120838.1:n.*175C>T
NM_181458.3:c.*175C>T	NP_852123.1:n.*175C>T
NM_181459.3:c.1459C>T	NP_852124.1:p.Gln487Ter
NM_181459.4:c.1459C>T	NP_852124.1:p.Gln487Ter
NM_181460.3:c.1212C>T	NP_852125.1:p.Phe404=
NM_181460.4:c.1212C>T	NP_852125.1:p.Phe404=
NM_181461.3:c.*171C>T	NP_852126.1:n.*171C>T
NM_181461.4:c.*171C>T	NP_852126.1:n.*171C>T
ENST00000336840.10:c.1212C>T	ENSP00000338767.5:p.Phe404=
ENST00000336840.11:c.1212C>T	ENSP00000338767.5:p.Phe404=
ENST00000344493.8:c.*171C>T	ENSP00000342092.4:n.*171C>T
ENST00000350526.8:c.*691C>T	ENSP00000343052.4:n.*691C>T
ENST00000392069.6:c.1459C>T	ENSP00000375921.2:p.Gln487Ter
ENST00000392070.6:c.*175C>T	ENSP00000375922.2:n.*175C>T
ENST00000464706.6:n.897C>T
ENST00000644699.1:n.785C>T
ENST00000646154.1:n.1444C>T
XM_011511278.1:c.1603C>T	XP_011509580.1:p.Gln535Ter
XM_011511279.1:c.895C>T	XP_011509581.1:p.Gln299Ter