Canonical Allele Identifier: CA351115535

Gene: PAX3

Linked Data

• COSMIC: COSM1017001 ; COSM4870237
• MyVariant Identifiers: chr2:g.223066722C>A (hg19) ; chr2:g.222202003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202003C>A , CM000664.2:g.222202003C>A	GRCh38
NC_000002.11:g.223066722C>A , CM000664.1:g.223066722C>A	GRCh37
NC_000002.10:g.222774966C>A	NCBI36
NG_011632.1:g.101979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-561G>T	ENSP00000338767.5:n.1174-561G>T
ENST00000344493.9:c.1174-561G>T	ENSP00000342092.4:n.1174-561G>T
ENST00000350526.9:c.1361G>T	ENSP00000343052.4:p.Ser454Ile
ENST00000392070.7:c.1361G>T MANE Select	ENSP00000375922.3:p.Ser454Ile
ENST00000464706.6:n.799G>T
ENST00000644699.1:n.687G>T
ENST00000646154.1:n.1175G>T
ENST00000336840.10:c.1174-561G>T	ENSP00000338767.5:n.1174-561G>T
ENST00000344493.8:c.1174-561G>T	ENSP00000342092.4:n.1174-561G>T
ENST00000350526.8:c.1361G>T	ENSP00000343052.4:p.Ser454Ile
ENST00000392069.6:c.1361G>T	ENSP00000375921.2:p.Ser454Ile
ENST00000392070.6:c.1361G>T	ENSP00000375922.2:p.Ser454Ile
ENST00000409551.7:c.1358G>T	ENSP00000386750.3:p.Ser453Ile
ENST00000464706.5:n.785G>T
NM_001127366.2:c.1358G>T	NP_001120838.1:p.Ser453Ile
NM_181457.3:c.1361G>T	NP_852122.1:p.Ser454Ile
NM_181458.3:c.1361G>T	NP_852123.1:p.Ser454Ile
NM_181459.3:c.1361G>T	NP_852124.1:p.Ser454Ile
NM_181460.3:c.1174-561G>T	NP_852125.1:n.1174-561G>T
NM_181461.3:c.1174-561G>T	NP_852126.1:n.1174-561G>T
XM_011511278.1:c.1505G>T	XP_011509580.1:p.Ser502Ile
XM_011511279.1:c.797G>T	XP_011509581.1:p.Ser266Ile
NM_001127366.3:c.1358G>T	NP_001120838.1:p.Ser453Ile
NM_181457.4:c.1361G>T	NP_852122.1:p.Ser454Ile
NM_181458.4:c.1361G>T MANE Select	NP_852123.1:p.Ser454Ile
NM_181459.4:c.1361G>T	NP_852124.1:p.Ser454Ile
NM_181460.4:c.1174-561G>T	NP_852125.1:n.1174-561G>T
NM_181461.4:c.1174-561G>T	NP_852126.1:n.1174-561G>T