Canonical Allele Identifier: CA253050
Gene: PAX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4217
dbSNP Id: rs267606931

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222297132C>A , CM000664.2:g.222297132C>A GRCh38
NC_000002.11:g.223161851C>A , CM000664.1:g.223161851C>A GRCh37
NC_000002.10:g.222870095C>A NCBI36
NG_011632.1:g.6850G>T
NG_021186.1:g.3986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258387.6:c.167G>T ENSP00000258387.5:p.Arg56Leu
ENST00000336840.11:c.167G>T ENSP00000338767.5:p.Arg56Leu
ENST00000344493.9:c.167G>T ENSP00000342092.4:p.Arg56Leu
ENST00000350526.9:c.167G>T ENSP00000343052.4:p.Arg56Leu
ENST00000392070.7:c.167G>T MANE Select ENSP00000375922.3:p.Arg56Leu
ENST00000647467.1:n.548G>T
ENST00000258387.5:c.167G>T ENSP00000258387.5:p.Arg56Leu
ENST00000336840.10:c.167G>T ENSP00000338767.5:p.Arg56Leu
ENST00000344493.8:c.167G>T ENSP00000342092.4:p.Arg56Leu
ENST00000350526.8:c.167G>T ENSP00000343052.4:p.Arg56Leu
ENST00000392069.6:c.167G>T ENSP00000375921.2:p.Arg56Leu
ENST00000392070.6:c.167G>T ENSP00000375922.2:p.Arg56Leu
ENST00000409551.7:c.167G>T ENSP00000386750.3:p.Arg56Leu
ENST00000409828.7:c.167G>T ENSP00000386817.3:p.Arg56Leu
NM_000438.5:c.167G>T NP_000429.2:p.Arg56Leu
NM_001127366.2:c.167G>T NP_001120838.1:p.Arg56Leu
NM_013942.4:c.167G>T NP_039230.1:p.Arg56Leu
NM_181457.3:c.167G>T NP_852122.1:p.Arg56Leu
NM_181458.3:c.167G>T NP_852123.1:p.Arg56Leu
NM_181459.3:c.167G>T NP_852124.1:p.Arg56Leu
NM_181460.3:c.167G>T NP_852125.1:p.Arg56Leu
NM_181461.3:c.167G>T NP_852126.1:p.Arg56Leu
XM_011511278.1:c.311G>T XP_011509580.1:p.Arg104Leu
XM_011511280.1:c.311G>T XP_011509582.1:p.Arg104Leu
XM_011511281.1:c.311G>T XP_011509583.1:p.Arg104Leu
NM_000438.6:c.167G>T NP_000429.2:p.Arg56Leu
NM_001127366.3:c.167G>T NP_001120838.1:p.Arg56Leu
NM_013942.5:c.167G>T NP_039230.1:p.Arg56Leu
NM_181457.4:c.167G>T NP_852122.1:p.Arg56Leu
NM_181458.4:c.167G>T MANE Select NP_852123.1:p.Arg56Leu
NM_181459.4:c.167G>T NP_852124.1:p.Arg56Leu
NM_181460.4:c.167G>T NP_852125.1:p.Arg56Leu
NM_181461.4:c.167G>T NP_852126.1:p.Arg56Leu