Canonical Allele Identifier: CA269911
Gene: PAX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 133308
dbSNP Id: rs483353059

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222297058C>A , CM000664.2:g.222297058C>A GRCh38
NC_000002.11:g.223161777C>A , CM000664.1:g.223161777C>A GRCh37
NC_000002.10:g.222870021C>A NCBI36
NG_011632.1:g.6924G>T
NG_021186.1:g.3912C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258387.6:c.241G>T ENSP00000258387.5:p.Gly81Cys
ENST00000336840.11:c.241G>T ENSP00000338767.5:p.Gly81Cys
ENST00000344493.9:c.241G>T ENSP00000342092.4:p.Gly81Cys
ENST00000350526.9:c.241G>T ENSP00000343052.4:p.Gly81Cys
ENST00000392070.7:c.241G>T MANE Select ENSP00000375922.3:p.Gly81Cys
ENST00000647467.1:n.622G>T
ENST00000258387.5:c.241G>T ENSP00000258387.5:p.Gly81Cys
ENST00000336840.10:c.241G>T ENSP00000338767.5:p.Gly81Cys
ENST00000344493.8:c.241G>T ENSP00000342092.4:p.Gly81Cys
ENST00000350526.8:c.241G>T ENSP00000343052.4:p.Gly81Cys
ENST00000392069.6:c.241G>T ENSP00000375921.2:p.Gly81Cys
ENST00000392070.6:c.241G>T ENSP00000375922.2:p.Gly81Cys
ENST00000409551.7:c.241G>T ENSP00000386750.3:p.Gly81Cys
ENST00000409828.7:c.241G>T ENSP00000386817.3:p.Gly81Cys
NM_000438.5:c.241G>T NP_000429.2:p.Gly81Cys
NM_001127366.2:c.241G>T NP_001120838.1:p.Gly81Cys
NM_013942.4:c.241G>T NP_039230.1:p.Gly81Cys
NM_181457.3:c.241G>T NP_852122.1:p.Gly81Cys
NM_181458.3:c.241G>T NP_852123.1:p.Gly81Cys
NM_181459.3:c.241G>T NP_852124.1:p.Gly81Cys
NM_181460.3:c.241G>T NP_852125.1:p.Gly81Cys
NM_181461.3:c.241G>T NP_852126.1:p.Gly81Cys
XM_011511278.1:c.385G>T XP_011509580.1:p.Gly129Cys
XM_011511280.1:c.385G>T XP_011509582.1:p.Gly129Cys
XM_011511281.1:c.385G>T XP_011509583.1:p.Gly129Cys
NM_000438.6:c.241G>T NP_000429.2:p.Gly81Cys
NM_001127366.3:c.241G>T NP_001120838.1:p.Gly81Cys
NM_013942.5:c.241G>T NP_039230.1:p.Gly81Cys
NM_181457.4:c.241G>T NP_852122.1:p.Gly81Cys
NM_181458.4:c.241G>T MANE Select NP_852123.1:p.Gly81Cys
NM_181459.4:c.241G>T NP_852124.1:p.Gly81Cys
NM_181460.4:c.241G>T NP_852125.1:p.Gly81Cys
NM_181461.4:c.241G>T NP_852126.1:p.Gly81Cys