Canonical Allele Identifier: CA16604154
Gene: PAX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 392483
ClinVar RCV Id: RCV000439995
dbSNP Id: rs1057524511
MyVariant Identifiers: chr2:g.223096987G>C (hg19) chr2:g.222232268G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222232268G>C , CM000664.2:g.222232268G>C GRCh38
NC_000002.11:g.223096987G>C , CM000664.1:g.223096987G>C GRCh37
NC_000002.10:g.222805231G>C NCBI36
NG_011632.1:g.71714C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000336840.11:c.602C>G ENSP00000338767.5:p.Ser201Ter
ENST00000344493.9:c.602C>G ENSP00000342092.4:p.Ser201Ter
ENST00000350526.9:c.602C>G ENSP00000343052.4:p.Ser201Ter
ENST00000392070.7:c.602C>G MANE Select ENSP00000375922.3:p.Ser201Ter
ENST00000646154.1:n.416C>G
ENST00000336840.10:c.602C>G ENSP00000338767.5:p.Ser201Ter
ENST00000344493.8:c.602C>G ENSP00000342092.4:p.Ser201Ter
ENST00000350526.8:c.602C>G ENSP00000343052.4:p.Ser201Ter
ENST00000392069.6:c.602C>G ENSP00000375921.2:p.Ser201Ter
ENST00000392070.6:c.602C>G ENSP00000375922.2:p.Ser201Ter
ENST00000409551.7:c.599C>G ENSP00000386750.3:p.Ser200Ter
NM_001127366.2:c.599C>G NP_001120838.1:p.Ser200Ter
NM_181457.3:c.602C>G NP_852122.1:p.Ser201Ter
NM_181458.3:c.602C>G NP_852123.1:p.Ser201Ter
NM_181459.3:c.602C>G NP_852124.1:p.Ser201Ter
NM_181460.3:c.602C>G NP_852125.1:p.Ser201Ter
NM_181461.3:c.602C>G NP_852126.1:p.Ser201Ter
XM_011511278.1:c.746C>G XP_011509580.1:p.Ser249Ter
XM_011511279.1:c.38C>G XP_011509581.1:p.Ser13Ter
XR_923945.1:n.287+10298G>C
NM_001127366.3:c.599C>G NP_001120838.1:p.Ser200Ter
NM_181457.4:c.602C>G NP_852122.1:p.Ser201Ter
NM_181458.4:c.602C>G MANE Select NP_852123.1:p.Ser201Ter
NM_181459.4:c.602C>G NP_852124.1:p.Ser201Ter
NM_181460.4:c.602C>G NP_852125.1:p.Ser201Ter
NM_181461.4:c.602C>G NP_852126.1:p.Ser201Ter
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