Canonical Allele Identifier: CA351115345

Gene: PAX3

Linked Data

• MyVariant Identifiers: chr2:g.223066160A>C (hg19) ; chr2:g.222201441A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201441A>C , CM000664.2:g.222201441A>C	GRCh38
NC_000002.11:g.223066160A>C , CM000664.1:g.223066160A>C	GRCh37
NC_000002.10:g.222774404A>C	NCBI36
NG_011632.1:g.102541T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1175T>G	ENSP00000338767.5:p.Val392Gly
ENST00000344493.9:c.1175T>G	ENSP00000342092.4:p.Val392Gly
ENST00000392070.7:c.1422T>G MANE Select	ENSP00000375922.3:p.Ser474Arg
ENST00000464706.6:n.860T>G
ENST00000644699.1:n.748T>G
ENST00000646154.1:n.1236T>G
ENST00000336840.10:c.1175T>G	ENSP00000338767.5:p.Val392Gly
ENST00000344493.8:c.1175T>G	ENSP00000342092.4:p.Val392Gly
ENST00000350526.8:c.*483T>G	ENSP00000343052.4:n.*483T>G
ENST00000392069.6:c.1422T>G	ENSP00000375921.2:p.Ser474Arg
ENST00000392070.6:c.1422T>G	ENSP00000375922.2:p.Ser474Arg
ENST00000409551.7:c.1419T>G	ENSP00000386750.3:p.Ser473Arg
NM_001127366.2:c.1419T>G	NP_001120838.1:p.Ser473Arg
NM_181458.3:c.1422T>G	NP_852123.1:p.Ser474Arg
NM_181459.3:c.1422T>G	NP_852124.1:p.Ser474Arg
NM_181460.3:c.1175T>G	NP_852125.1:p.Val392Gly
NM_181461.3:c.1175T>G	NP_852126.1:p.Val392Gly
XM_011511278.1:c.1566T>G	XP_011509580.1:p.Ser522Arg
XM_011511279.1:c.858T>G	XP_011509581.1:p.Ser286Arg
NM_001127366.3:c.1419T>G	NP_001120838.1:p.Ser473Arg
NM_181458.4:c.1422T>G MANE Select	NP_852123.1:p.Ser474Arg
NM_181459.4:c.1422T>G	NP_852124.1:p.Ser474Arg
NM_181460.4:c.1175T>G	NP_852125.1:p.Val392Gly
NM_181461.4:c.1175T>G	NP_852126.1:p.Val392Gly