Canonical Allele Identifier: CA351113232
Gene: PAX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1918125
ClinVar RCV Id: RCV002601807
dbSNP Id: rs1695254940

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222295615T>C , CM000664.2:g.222295615T>C GRCh38
NC_000002.11:g.223160334T>C , CM000664.1:g.223160334T>C GRCh37
NC_000002.10:g.222868578T>C NCBI36
NG_011632.1:g.8367A>G
NG_021186.1:g.2469T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258387.6:c.364A>G ENSP00000258387.5:p.Lys122Glu
ENST00000336840.11:c.364A>G ENSP00000338767.5:p.Lys122Glu
ENST00000344493.9:c.364A>G ENSP00000342092.4:p.Lys122Glu
ENST00000350526.9:c.364A>G ENSP00000343052.4:p.Lys122Glu
ENST00000392070.7:c.364A>G MANE Select ENSP00000375922.3:p.Lys122Glu
ENST00000647467.1:n.745A>G
ENST00000258387.5:c.364A>G ENSP00000258387.5:p.Lys122Glu
ENST00000336840.10:c.364A>G ENSP00000338767.5:p.Lys122Glu
ENST00000344493.8:c.364A>G ENSP00000342092.4:p.Lys122Glu
ENST00000350526.8:c.364A>G ENSP00000343052.4:p.Lys122Glu
ENST00000392069.6:c.364A>G ENSP00000375921.2:p.Lys122Glu
ENST00000392070.6:c.364A>G ENSP00000375922.2:p.Lys122Glu
ENST00000409551.7:c.361A>G ENSP00000386750.3:p.Lys121Glu
ENST00000409828.7:c.364A>G ENSP00000386817.3:p.Lys122Glu
NM_000438.5:c.364A>G NP_000429.2:p.Lys122Glu
NM_001127366.2:c.361A>G NP_001120838.1:p.Lys121Glu
NM_013942.4:c.364A>G NP_039230.1:p.Lys122Glu
NM_181457.3:c.364A>G NP_852122.1:p.Lys122Glu
NM_181458.3:c.364A>G NP_852123.1:p.Lys122Glu
NM_181459.3:c.364A>G NP_852124.1:p.Lys122Glu
NM_181460.3:c.364A>G NP_852125.1:p.Lys122Glu
NM_181461.3:c.364A>G NP_852126.1:p.Lys122Glu
XM_011511278.1:c.508A>G XP_011509580.1:p.Lys170Glu
XM_011511280.1:c.508A>G XP_011509582.1:p.Lys170Glu
XM_011511281.1:c.508A>G XP_011509583.1:p.Lys170Glu
NM_000438.6:c.364A>G NP_000429.2:p.Lys122Glu
NM_001127366.3:c.361A>G NP_001120838.1:p.Lys121Glu
NM_013942.5:c.364A>G NP_039230.1:p.Lys122Glu
NM_181457.4:c.364A>G NP_852122.1:p.Lys122Glu
NM_181458.4:c.364A>G MANE Select NP_852123.1:p.Lys122Glu
NM_181459.4:c.364A>G NP_852124.1:p.Lys122Glu
NM_181460.4:c.364A>G NP_852125.1:p.Lys122Glu
NM_181461.4:c.364A>G NP_852126.1:p.Lys122Glu