Canonical Allele Identifier: CA351112603

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232199G>A , CM000664.2:g.222232199G>A	GRCh38
NC_000002.11:g.223096918G>A , CM000664.1:g.223096918G>A	GRCh37
NC_000002.10:g.222805162G>A	NCBI36
NG_011632.1:g.71783C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181458.4:c.671C>T MANE Select	NP_852123.1:p.Thr224Ile
ENST00000392070.7:c.671C>T MANE Select	ENSP00000375922.3:p.Thr224Ile
NM_001127366.2:c.668C>T	NP_001120838.1:p.Thr223Ile
NM_001127366.3:c.668C>T	NP_001120838.1:p.Thr223Ile
NM_181457.3:c.671C>T	NP_852122.1:p.Thr224Ile
NM_181457.4:c.671C>T	NP_852122.1:p.Thr224Ile
NM_181458.3:c.671C>T	NP_852123.1:p.Thr224Ile
NM_181459.3:c.671C>T	NP_852124.1:p.Thr224Ile
NM_181459.4:c.671C>T	NP_852124.1:p.Thr224Ile
NM_181460.3:c.671C>T	NP_852125.1:p.Thr224Ile
NM_181460.4:c.671C>T	NP_852125.1:p.Thr224Ile
NM_181461.3:c.671C>T	NP_852126.1:p.Thr224Ile
NM_181461.4:c.671C>T	NP_852126.1:p.Thr224Ile
ENST00000336840.10:c.671C>T	ENSP00000338767.5:p.Thr224Ile
ENST00000336840.11:c.671C>T	ENSP00000338767.5:p.Thr224Ile
ENST00000344493.8:c.671C>T	ENSP00000342092.4:p.Thr224Ile
ENST00000344493.9:c.671C>T	ENSP00000342092.4:p.Thr224Ile
ENST00000350526.8:c.671C>T	ENSP00000343052.4:p.Thr224Ile
ENST00000350526.9:c.671C>T	ENSP00000343052.4:p.Thr224Ile
ENST00000392069.6:c.671C>T	ENSP00000375921.2:p.Thr224Ile
ENST00000392070.6:c.671C>T	ENSP00000375922.2:p.Thr224Ile
ENST00000409551.7:c.668C>T	ENSP00000386750.3:p.Thr223Ile
ENST00000646154.1:n.485C>T
XM_011511278.1:c.815C>T	XP_011509580.1:p.Thr272Ile
XM_011511279.1:c.107C>T	XP_011509581.1:p.Thr36Ile
XR_923945.1:n.287+10229G>A