Canonical Allele Identifier: CA351112488

Gene: PAX3

Linked Data

• MyVariant Identifiers: chr2:g.223096890T>A (hg19) ; chr2:g.222232171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232171T>A , CM000664.2:g.222232171T>A	GRCh38
NC_000002.11:g.223096890T>A , CM000664.1:g.223096890T>A	GRCh37
NC_000002.10:g.222805134T>A	NCBI36
NG_011632.1:g.71811A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.699A>T	ENSP00000338767.5:p.Glu233Asp
ENST00000344493.9:c.699A>T	ENSP00000342092.4:p.Glu233Asp
ENST00000350526.9:c.699A>T	ENSP00000343052.4:p.Glu233Asp
ENST00000392070.7:c.699A>T MANE Select	ENSP00000375922.3:p.Glu233Asp
ENST00000646154.1:n.513A>T
ENST00000336840.10:c.699A>T	ENSP00000338767.5:p.Glu233Asp
ENST00000344493.8:c.699A>T	ENSP00000342092.4:p.Glu233Asp
ENST00000350526.8:c.699A>T	ENSP00000343052.4:p.Glu233Asp
ENST00000392069.6:c.699A>T	ENSP00000375921.2:p.Glu233Asp
ENST00000392070.6:c.699A>T	ENSP00000375922.2:p.Glu233Asp
ENST00000409551.7:c.696A>T	ENSP00000386750.3:p.Glu232Asp
NM_001127366.2:c.696A>T	NP_001120838.1:p.Glu232Asp
NM_181457.3:c.699A>T	NP_852122.1:p.Glu233Asp
NM_181458.3:c.699A>T	NP_852123.1:p.Glu233Asp
NM_181459.3:c.699A>T	NP_852124.1:p.Glu233Asp
NM_181460.3:c.699A>T	NP_852125.1:p.Glu233Asp
NM_181461.3:c.699A>T	NP_852126.1:p.Glu233Asp
XM_011511278.1:c.843A>T	XP_011509580.1:p.Glu281Asp
XM_011511279.1:c.135A>T	XP_011509581.1:p.Glu45Asp
XR_923945.1:n.287+10201T>A
NM_001127366.3:c.696A>T	NP_001120838.1:p.Glu232Asp
NM_181457.4:c.699A>T	NP_852122.1:p.Glu233Asp
NM_181458.4:c.699A>T MANE Select	NP_852123.1:p.Glu233Asp
NM_181459.4:c.699A>T	NP_852124.1:p.Glu233Asp
NM_181460.4:c.699A>T	NP_852125.1:p.Glu233Asp
NM_181461.4:c.699A>T	NP_852126.1:p.Glu233Asp