Canonical Allele Identifier: CA351115562

Gene: PAX3

Linked Data

• ClinVar Variation Id: 2168904
• ClinVar RCV Id: RCV003082804
• dbSNP Id: rs1691312085
• MyVariant Identifiers: chr2:g.223066735G>C (hg19) ; chr2:g.222202016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202016G>C , CM000664.2:g.222202016G>C	GRCh38
NC_000002.11:g.223066735G>C , CM000664.1:g.223066735G>C	GRCh37
NC_000002.10:g.222774979G>C	NCBI36
NG_011632.1:g.101966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-574C>G	ENSP00000338767.5:n.1174-574C>G
ENST00000344493.9:c.1174-574C>G	ENSP00000342092.4:n.1174-574C>G
ENST00000350526.9:c.1348C>G	ENSP00000343052.4:p.Pro450Ala
ENST00000392070.7:c.1348C>G MANE Select	ENSP00000375922.3:p.Pro450Ala
ENST00000464706.6:n.786C>G
ENST00000644699.1:n.674C>G
ENST00000646154.1:n.1162C>G
ENST00000336840.10:c.1174-574C>G	ENSP00000338767.5:n.1174-574C>G
ENST00000344493.8:c.1174-574C>G	ENSP00000342092.4:n.1174-574C>G
ENST00000350526.8:c.1348C>G	ENSP00000343052.4:p.Pro450Ala
ENST00000392069.6:c.1348C>G	ENSP00000375921.2:p.Pro450Ala
ENST00000392070.6:c.1348C>G	ENSP00000375922.2:p.Pro450Ala
ENST00000409551.7:c.1345C>G	ENSP00000386750.3:p.Pro449Ala
ENST00000464706.5:n.772C>G
NM_001127366.2:c.1345C>G	NP_001120838.1:p.Pro449Ala
NM_181457.3:c.1348C>G	NP_852122.1:p.Pro450Ala
NM_181458.3:c.1348C>G	NP_852123.1:p.Pro450Ala
NM_181459.3:c.1348C>G	NP_852124.1:p.Pro450Ala
NM_181460.3:c.1174-574C>G	NP_852125.1:n.1174-574C>G
NM_181461.3:c.1174-574C>G	NP_852126.1:n.1174-574C>G
XM_011511278.1:c.1492C>G	XP_011509580.1:p.Pro498Ala
XM_011511279.1:c.784C>G	XP_011509581.1:p.Pro262Ala
NM_001127366.3:c.1345C>G	NP_001120838.1:p.Pro449Ala
NM_181457.4:c.1348C>G	NP_852122.1:p.Pro450Ala
NM_181458.4:c.1348C>G MANE Select	NP_852123.1:p.Pro450Ala
NM_181459.4:c.1348C>G	NP_852124.1:p.Pro450Ala
NM_181460.4:c.1174-574C>G	NP_852125.1:n.1174-574C>G
NM_181461.4:c.1174-574C>G	NP_852126.1:n.1174-574C>G