Canonical Allele Identifier: CA351115701

Gene: PAX3

Linked Data

• MyVariant Identifiers: chr2:g.223066796G>C (hg19) ; chr2:g.222202077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202077G>C , CM000664.2:g.222202077G>C	GRCh38
NC_000002.11:g.223066796G>C , CM000664.1:g.223066796G>C	GRCh37
NC_000002.10:g.222775040G>C	NCBI36
NG_011632.1:g.101905C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-635C>G	ENSP00000338767.5:n.1174-635C>G
ENST00000344493.9:c.1174-635C>G	ENSP00000342092.4:n.1174-635C>G
ENST00000350526.9:c.1287C>G	ENSP00000343052.4:p.Cys429Trp
ENST00000392070.7:c.1287C>G MANE Select	ENSP00000375922.3:p.Cys429Trp
ENST00000464706.6:n.725C>G
ENST00000644699.1:n.613C>G
ENST00000646154.1:n.1101C>G
ENST00000336840.10:c.1174-635C>G	ENSP00000338767.5:n.1174-635C>G
ENST00000344493.8:c.1174-635C>G	ENSP00000342092.4:n.1174-635C>G
ENST00000350526.8:c.1287C>G	ENSP00000343052.4:p.Cys429Trp
ENST00000392069.6:c.1287C>G	ENSP00000375921.2:p.Cys429Trp
ENST00000392070.6:c.1287C>G	ENSP00000375922.2:p.Cys429Trp
ENST00000409551.7:c.1284C>G	ENSP00000386750.3:p.Cys428Trp
ENST00000464706.5:n.711C>G
NM_001127366.2:c.1284C>G	NP_001120838.1:p.Cys428Trp
NM_181457.3:c.1287C>G	NP_852122.1:p.Cys429Trp
NM_181458.3:c.1287C>G	NP_852123.1:p.Cys429Trp
NM_181459.3:c.1287C>G	NP_852124.1:p.Cys429Trp
NM_181460.3:c.1174-635C>G	NP_852125.1:n.1174-635C>G
NM_181461.3:c.1174-635C>G	NP_852126.1:n.1174-635C>G
XM_011511278.1:c.1431C>G	XP_011509580.1:p.Cys477Trp
XM_011511279.1:c.723C>G	XP_011509581.1:p.Cys241Trp
NM_001127366.3:c.1284C>G	NP_001120838.1:p.Cys428Trp
NM_181457.4:c.1287C>G	NP_852122.1:p.Cys429Trp
NM_181458.4:c.1287C>G MANE Select	NP_852123.1:p.Cys429Trp
NM_181459.4:c.1287C>G	NP_852124.1:p.Cys429Trp
NM_181460.4:c.1174-635C>G	NP_852125.1:n.1174-635C>G
NM_181461.4:c.1174-635C>G	NP_852126.1:n.1174-635C>G