Canonical Allele Identifier: CA1330502833
Gene: PAX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222202143C= , CM000664.2:g.222202143C= GRCh38
NC_000002.11:g.223066862C= , CM000664.1:g.223066862C= GRCh37
NC_000002.10:g.222775106C= NCBI36
NG_011632.1:g.101839G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336840.11:c.1174-701G= ENSP00000338767.5:n.1174-701G=
ENST00000344493.9:c.1174-701G= ENSP00000342092.4:n.1174-701G=
ENST00000350526.9:c.1221G= ENSP00000343052.4:p.Gln407=
ENST00000392070.7:c.1221G= MANE Select ENSP00000375922.3:p.Gln407=
ENST00000464706.6:n.659G=
ENST00000644699.1:n.547G=
ENST00000646154.1:n.1035G=
ENST00000336840.10:c.1174-701G= ENSP00000338767.5:n.1174-701G=
ENST00000344493.8:c.1174-701G= ENSP00000342092.4:n.1174-701G=
ENST00000350526.8:c.1221G= ENSP00000343052.4:p.Gln407=
ENST00000392069.6:c.1221G= ENSP00000375921.2:p.Gln407=
ENST00000392070.6:c.1221G= ENSP00000375922.2:p.Gln407=
ENST00000409551.7:c.1218G= ENSP00000386750.3:p.Gln406=
ENST00000464706.5:n.645G=
ENST00000555548.1:n.452G=
NM_001127366.2:c.1218G= NP_001120838.1:p.Gln406=
NM_181457.3:c.1221G= NP_852122.1:p.Gln407=
NM_181458.3:c.1221G= NP_852123.1:p.Gln407=
NM_181459.3:c.1221G= NP_852124.1:p.Gln407=
NM_181460.3:c.1174-701G= NP_852125.1:n.1174-701G=
NM_181461.3:c.1174-701G= NP_852126.1:n.1174-701G=
XM_011511278.1:c.1365G= XP_011509580.1:p.Gln455=
XM_011511279.1:c.657G= XP_011509581.1:p.Gln219=
NM_001127366.3:c.1218G= NP_001120838.1:p.Gln406=
NM_181457.4:c.1221G= NP_852122.1:p.Gln407=
NM_181458.4:c.1221G= MANE Select NP_852123.1:p.Gln407=
NM_181459.4:c.1221G= NP_852124.1:p.Gln407=
NM_181460.4:c.1174-701G= NP_852125.1:n.1174-701G=
NM_181461.4:c.1174-701G= NP_852126.1:n.1174-701G=