Canonical Allele Identifier: CA1330502389
Gene: PAX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222201758C= , CM000664.2:g.222201758C= GRCh38
NC_000002.11:g.223066477C= , CM000664.1:g.223066477C= GRCh37
NC_000002.10:g.222774721C= NCBI36
NG_011632.1:g.102224G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336840.11:c.1174-316G= ENSP00000338767.5:n.1174-316G=
ENST00000344493.9:c.1174-316G= ENSP00000342092.4:n.1174-316G=
ENST00000350526.9:c.*166G= ENSP00000343052.4:n.*166G=
ENST00000392070.7:c.1420+186G= MANE Select ENSP00000375922.3:n.1420+186G=
ENST00000464706.6:n.858+186G=
ENST00000644699.1:n.746+186G=
ENST00000646154.1:n.1234+186G=
ENST00000336840.10:c.1174-316G= ENSP00000338767.5:n.1174-316G=
ENST00000344493.8:c.1174-316G= ENSP00000342092.4:n.1174-316G=
ENST00000350526.8:c.*166G= ENSP00000343052.4:n.*166G=
ENST00000392069.6:c.1420+186G= ENSP00000375921.2:n.1420+186G=
ENST00000392070.6:c.1420+186G= ENSP00000375922.2:n.1420+186G=
ENST00000409551.7:c.1417+186G= ENSP00000386750.3:n.1417+186G=
NM_001127366.2:c.1417+186G= NP_001120838.1:n.1417+186G=
NM_181457.3:c.*166G= NP_852122.1:n.*166G=
NM_181458.3:c.1420+186G= NP_852123.1:n.1420+186G=
NM_181459.3:c.1420+186G= NP_852124.1:n.1420+186G=
NM_181460.3:c.1174-316G= NP_852125.1:n.1174-316G=
NM_181461.3:c.1174-316G= NP_852126.1:n.1174-316G=
XM_011511278.1:c.1564+186G= XP_011509580.1:n.1564+186G=
XM_011511279.1:c.856+186G= XP_011509581.1:n.856+186G=
NM_001127366.3:c.1417+186G= NP_001120838.1:n.1417+186G=
NM_181457.4:c.*166G= NP_852122.1:n.*166G=
NM_181458.4:c.1420+186G= MANE Select NP_852123.1:n.1420+186G=
NM_181459.4:c.1420+186G= NP_852124.1:n.1420+186G=
NM_181460.4:c.1174-316G= NP_852125.1:n.1174-316G=
NM_181461.4:c.1174-316G= NP_852126.1:n.1174-316G=