Canonical Allele Identifier: CA351116648

Gene: PAX3

Linked Data

• MyVariant Identifiers: chr2:g.223086051A>C (hg19) ; chr2:g.222221332A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221332A>C , CM000664.2:g.222221332A>C	GRCh38
NC_000002.11:g.223086051A>C , CM000664.1:g.223086051A>C	GRCh37
NC_000002.10:g.222794295A>C	NCBI36
NG_011632.1:g.82650T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.848T>G	ENSP00000338767.5:p.Leu283Arg
ENST00000344493.9:c.848T>G	ENSP00000342092.4:p.Leu283Arg
ENST00000350526.9:c.848T>G	ENSP00000343052.4:p.Leu283Arg
ENST00000392070.7:c.848T>G MANE Select	ENSP00000375922.3:p.Leu283Arg
ENST00000464706.6:n.286T>G
ENST00000644699.1:n.174T>G
ENST00000644937.1:n.120T>G
ENST00000646154.1:n.662T>G
ENST00000336840.10:c.848T>G	ENSP00000338767.5:p.Leu283Arg
ENST00000344493.8:c.848T>G	ENSP00000342092.4:p.Leu283Arg
ENST00000350526.8:c.848T>G	ENSP00000343052.4:p.Leu283Arg
ENST00000392069.6:c.848T>G	ENSP00000375921.2:p.Leu283Arg
ENST00000392070.6:c.848T>G	ENSP00000375922.2:p.Leu283Arg
ENST00000409551.7:c.845T>G	ENSP00000386750.3:p.Leu282Arg
ENST00000464706.5:n.272T>G
ENST00000555548.1:n.79T>G
NM_001127366.2:c.845T>G	NP_001120838.1:p.Leu282Arg
NM_181457.3:c.848T>G	NP_852122.1:p.Leu283Arg
NM_181458.3:c.848T>G	NP_852123.1:p.Leu283Arg
NM_181459.3:c.848T>G	NP_852124.1:p.Leu283Arg
NM_181460.3:c.848T>G	NP_852125.1:p.Leu283Arg
NM_181461.3:c.848T>G	NP_852126.1:p.Leu283Arg
XM_011511278.1:c.992T>G	XP_011509580.1:p.Leu331Arg
XM_011511279.1:c.284T>G	XP_011509581.1:p.Leu95Arg
NM_001127366.3:c.845T>G	NP_001120838.1:p.Leu282Arg
NM_181457.4:c.848T>G	NP_852122.1:p.Leu283Arg
NM_181458.4:c.848T>G MANE Select	NP_852123.1:p.Leu283Arg
NM_181459.4:c.848T>G	NP_852124.1:p.Leu283Arg
NM_181460.4:c.848T>G	NP_852125.1:p.Leu283Arg
NM_181461.4:c.848T>G	NP_852126.1:p.Leu283Arg