Canonical Allele Identifier: CA351112539

Gene: PAX3

Linked Data

• ClinVar Variation Id: 1708138
• ClinVar RCV Id: RCV002287291
• COSMIC: COSM1017012
• MyVariant Identifiers: chr2:g.223096901G>T (hg19) ; chr2:g.222232182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232182G>T , CM000664.2:g.222232182G>T	GRCh38
NC_000002.11:g.223096901G>T , CM000664.1:g.223096901G>T	GRCh37
NC_000002.10:g.222805145G>T	NCBI36
NG_011632.1:g.71800C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.688C>A	ENSP00000338767.5:p.Gln230Lys
ENST00000344493.9:c.688C>A	ENSP00000342092.4:p.Gln230Lys
ENST00000350526.9:c.688C>A	ENSP00000343052.4:p.Gln230Lys
ENST00000392070.7:c.688C>A MANE Select	ENSP00000375922.3:p.Gln230Lys
ENST00000646154.1:n.502C>A
ENST00000336840.10:c.688C>A	ENSP00000338767.5:p.Gln230Lys
ENST00000344493.8:c.688C>A	ENSP00000342092.4:p.Gln230Lys
ENST00000350526.8:c.688C>A	ENSP00000343052.4:p.Gln230Lys
ENST00000392069.6:c.688C>A	ENSP00000375921.2:p.Gln230Lys
ENST00000392070.6:c.688C>A	ENSP00000375922.2:p.Gln230Lys
ENST00000409551.7:c.685C>A	ENSP00000386750.3:p.Gln229Lys
NM_001127366.2:c.685C>A	NP_001120838.1:p.Gln229Lys
NM_181457.3:c.688C>A	NP_852122.1:p.Gln230Lys
NM_181458.3:c.688C>A	NP_852123.1:p.Gln230Lys
NM_181459.3:c.688C>A	NP_852124.1:p.Gln230Lys
NM_181460.3:c.688C>A	NP_852125.1:p.Gln230Lys
NM_181461.3:c.688C>A	NP_852126.1:p.Gln230Lys
XM_011511278.1:c.832C>A	XP_011509580.1:p.Gln278Lys
XM_011511279.1:c.124C>A	XP_011509581.1:p.Gln42Lys
XR_923945.1:n.287+10212G>T
NM_001127366.3:c.685C>A	NP_001120838.1:p.Gln229Lys
NM_181457.4:c.688C>A	NP_852122.1:p.Gln230Lys
NM_181458.4:c.688C>A MANE Select	NP_852123.1:p.Gln230Lys
NM_181459.4:c.688C>A	NP_852124.1:p.Gln230Lys
NM_181460.4:c.688C>A	NP_852125.1:p.Gln230Lys
NM_181461.4:c.688C>A	NP_852126.1:p.Gln230Lys