Canonical Allele Identifier: CA1330502622
Gene: PAX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222201986T= , CM000664.2:g.222201986T= GRCh38
NC_000002.11:g.223066705T= , CM000664.1:g.223066705T= GRCh37
NC_000002.10:g.222774949T= NCBI36
NG_011632.1:g.101996A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336840.11:c.1174-544A= ENSP00000338767.5:n.1174-544A=
ENST00000344493.9:c.1174-544A= ENSP00000342092.4:n.1174-544A=
ENST00000350526.9:c.1378A= ENSP00000343052.4:p.Met460=
ENST00000392070.7:c.1378A= MANE Select ENSP00000375922.3:p.Met460=
ENST00000464706.6:n.816A=
ENST00000644699.1:n.704A=
ENST00000646154.1:n.1192A=
ENST00000336840.10:c.1174-544A= ENSP00000338767.5:n.1174-544A=
ENST00000344493.8:c.1174-544A= ENSP00000342092.4:n.1174-544A=
ENST00000350526.8:c.1378A= ENSP00000343052.4:p.Met460=
ENST00000392069.6:c.1378A= ENSP00000375921.2:p.Met460=
ENST00000392070.6:c.1378A= ENSP00000375922.2:p.Met460=
ENST00000409551.7:c.1375A= ENSP00000386750.3:p.Met459=
ENST00000464706.5:n.802A=
NM_001127366.2:c.1375A= NP_001120838.1:p.Met459=
NM_181457.3:c.1378A= NP_852122.1:p.Met460=
NM_181458.3:c.1378A= NP_852123.1:p.Met460=
NM_181459.3:c.1378A= NP_852124.1:p.Met460=
NM_181460.3:c.1174-544A= NP_852125.1:n.1174-544A=
NM_181461.3:c.1174-544A= NP_852126.1:n.1174-544A=
XM_011511278.1:c.1522A= XP_011509580.1:p.Met508=
XM_011511279.1:c.814A= XP_011509581.1:p.Met272=
NM_001127366.3:c.1375A= NP_001120838.1:p.Met459=
NM_181457.4:c.1378A= NP_852122.1:p.Met460=
NM_181458.4:c.1378A= MANE Select NP_852123.1:p.Met460=
NM_181459.4:c.1378A= NP_852124.1:p.Met460=
NM_181460.4:c.1174-544A= NP_852125.1:n.1174-544A=
NM_181461.4:c.1174-544A= NP_852126.1:n.1174-544A=