Canonical Allele Identifier: CA351112463

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222294167C>T , CM000664.2:g.222294167C>T	GRCh38
NC_000002.11:g.223158886C>T , CM000664.1:g.223158886C>T	GRCh37
NC_000002.10:g.222867130C>T	NCBI36
NG_011632.1:g.9815G>A
NG_021186.1:g.1021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.586G>A	ENSP00000258387.5:p.Gly196Arg
ENST00000336840.11:c.586G>A	ENSP00000338767.5:p.Ala196Thr
ENST00000344493.9:c.586G>A	ENSP00000342092.4:p.Ala196Thr
ENST00000350526.9:c.586G>A	ENSP00000343052.4:p.Ala196Thr
ENST00000392070.7:c.586G>A MANE Select	ENSP00000375922.3:p.Ala196Thr
ENST00000644490.1:n.28G>A
ENST00000647467.1:n.967G>A
ENST00000258387.5:c.586G>A	ENSP00000258387.5:p.Gly196Arg
ENST00000336840.10:c.586G>A	ENSP00000338767.5:p.Ala196Thr
ENST00000344493.8:c.586G>A	ENSP00000342092.4:p.Ala196Thr
ENST00000350526.8:c.586G>A	ENSP00000343052.4:p.Ala196Thr
ENST00000392069.6:c.586G>A	ENSP00000375921.2:p.Ala196Thr
ENST00000392070.6:c.586G>A	ENSP00000375922.2:p.Ala196Thr
ENST00000409551.7:c.583G>A	ENSP00000386750.3:p.Ala195Thr
ENST00000409828.7:c.586G>A	ENSP00000386817.3:p.Gly196Ser
NM_000438.5:c.586G>A	NP_000429.2:p.Gly196Ser
NM_001127366.2:c.583G>A	NP_001120838.1:p.Ala195Thr
NM_013942.4:c.586G>A	NP_039230.1:p.Gly196Arg
NM_181457.3:c.586G>A	NP_852122.1:p.Ala196Thr
NM_181458.3:c.586G>A	NP_852123.1:p.Ala196Thr
NM_181459.3:c.586G>A	NP_852124.1:p.Ala196Thr
NM_181460.3:c.586G>A	NP_852125.1:p.Ala196Thr
NM_181461.3:c.586G>A	NP_852126.1:p.Ala196Thr
XM_011511278.1:c.730G>A	XP_011509580.1:p.Ala244Thr
XM_011511280.1:c.730G>A	XP_011509582.1:p.Glu244Lys
XM_011511281.1:c.730G>A	XP_011509583.1:p.Gly244Arg
NM_000438.6:c.586G>A	NP_000429.2:p.Gly196Ser
NM_001127366.3:c.583G>A	NP_001120838.1:p.Ala195Thr
NM_013942.5:c.586G>A	NP_039230.1:p.Gly196Arg
NM_181457.4:c.586G>A	NP_852122.1:p.Ala196Thr
NM_181458.4:c.586G>A MANE Select	NP_852123.1:p.Ala196Thr
NM_181459.4:c.586G>A	NP_852124.1:p.Ala196Thr
NM_181460.4:c.586G>A	NP_852125.1:p.Ala196Thr
NM_181461.4:c.586G>A	NP_852126.1:p.Ala196Thr