Canonical Allele Identifier: CA431668852

Gene: PAX3

Linked Data

• dbSNP Id: rs754746623
• MyVariant Identifiers: chr2:g.223066862C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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