Canonical Allele Identifier: CA2135706

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222294225C>T , CM000664.2:g.222294225C>T	GRCh38
NC_000002.11:g.223158944C>T , CM000664.1:g.223158944C>T	GRCh37
NC_000002.10:g.222867188C>T	NCBI36
NG_011632.1:g.9757G>A
NG_021186.1:g.1079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.528G>A	ENSP00000258387.5:p.Glu176=
ENST00000336840.11:c.528G>A	ENSP00000338767.5:p.Glu176=
ENST00000344493.9:c.528G>A	ENSP00000342092.4:p.Glu176=
ENST00000350526.9:c.528G>A	ENSP00000343052.4:p.Glu176=
ENST00000392070.7:c.528G>A MANE Select	ENSP00000375922.3:p.Glu176=
ENST00000647467.1:n.909G>A
ENST00000258387.5:c.528G>A	ENSP00000258387.5:p.Glu176=
ENST00000336840.10:c.528G>A	ENSP00000338767.5:p.Glu176=
ENST00000344493.8:c.528G>A	ENSP00000342092.4:p.Glu176=
ENST00000350526.8:c.528G>A	ENSP00000343052.4:p.Glu176=
ENST00000392069.6:c.528G>A	ENSP00000375921.2:p.Glu176=
ENST00000392070.6:c.528G>A	ENSP00000375922.2:p.Glu176=
ENST00000409551.7:c.525G>A	ENSP00000386750.3:p.Glu175=
ENST00000409828.7:c.528G>A	ENSP00000386817.3:p.Glu176=
NM_000438.5:c.528G>A	NP_000429.2:p.Glu176=
NM_001127366.2:c.525G>A	NP_001120838.1:p.Glu175=
NM_013942.4:c.528G>A	NP_039230.1:p.Glu176=
NM_181457.3:c.528G>A	NP_852122.1:p.Glu176=
NM_181458.3:c.528G>A	NP_852123.1:p.Glu176=
NM_181459.3:c.528G>A	NP_852124.1:p.Glu176=
NM_181460.3:c.528G>A	NP_852125.1:p.Glu176=
NM_181461.3:c.528G>A	NP_852126.1:p.Glu176=
XM_011511278.1:c.672G>A	XP_011509580.1:p.Glu224=
XM_011511280.1:c.672G>A	XP_011509582.1:p.Glu224=
XM_011511281.1:c.672G>A	XP_011509583.1:p.Glu224=
NM_000438.6:c.528G>A	NP_000429.2:p.Glu176=
NM_001127366.3:c.525G>A	NP_001120838.1:p.Glu175=
NM_013942.5:c.528G>A	NP_039230.1:p.Glu176=
NM_181457.4:c.528G>A	NP_852122.1:p.Glu176=
NM_181458.4:c.528G>A MANE Select	NP_852123.1:p.Glu176=
NM_181459.4:c.528G>A	NP_852124.1:p.Glu176=
NM_181460.4:c.528G>A	NP_852125.1:p.Glu176=
NM_181461.4:c.528G>A	NP_852126.1:p.Glu176=