Canonical Allele Identifier: CA10614495

Gene: PAX3

Linked Data

• ClinVar Variation Id: 334558
• ClinVar RCV Id: RCV000322316 ; RCV000376940 ; RCV003168505
• dbSNP Id: rs374318137
• MyVariant Identifiers: chr2:g.223066879C>T (hg19) ; chr2:g.222202160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202160C>T , CM000664.2:g.222202160C>T	GRCh38
NC_000002.11:g.223066879C>T , CM000664.1:g.223066879C>T	GRCh37
NC_000002.10:g.222775123C>T	NCBI36
NG_011632.1:g.101822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-718G>A	ENSP00000338767.5:n.1174-718G>A
ENST00000344493.9:c.1174-718G>A	ENSP00000342092.4:n.1174-718G>A
ENST00000350526.9:c.1204G>A	ENSP00000343052.4:p.Val402Ile
ENST00000392070.7:c.1204G>A MANE Select	ENSP00000375922.3:p.Val402Ile
ENST00000464706.6:n.642G>A
ENST00000644699.1:n.530G>A
ENST00000646154.1:n.1018G>A
ENST00000336840.10:c.1174-718G>A	ENSP00000338767.5:n.1174-718G>A
ENST00000344493.8:c.1174-718G>A	ENSP00000342092.4:n.1174-718G>A
ENST00000350526.8:c.1204G>A	ENSP00000343052.4:p.Val402Ile
ENST00000392069.6:c.1204G>A	ENSP00000375921.2:p.Val402Ile
ENST00000392070.6:c.1204G>A	ENSP00000375922.2:p.Val402Ile
ENST00000409551.7:c.1201G>A	ENSP00000386750.3:p.Val401Ile
ENST00000464706.5:n.628G>A
ENST00000555548.1:n.435G>A
NM_001127366.2:c.1201G>A	NP_001120838.1:p.Val401Ile
NM_181457.3:c.1204G>A	NP_852122.1:p.Val402Ile
NM_181458.3:c.1204G>A	NP_852123.1:p.Val402Ile
NM_181459.3:c.1204G>A	NP_852124.1:p.Val402Ile
NM_181460.3:c.1174-718G>A	NP_852125.1:n.1174-718G>A
NM_181461.3:c.1174-718G>A	NP_852126.1:n.1174-718G>A
XM_011511278.1:c.1348G>A	XP_011509580.1:p.Val450Ile
XM_011511279.1:c.640G>A	XP_011509581.1:p.Val214Ile
NM_001127366.3:c.1201G>A	NP_001120838.1:p.Val401Ile
NM_181457.4:c.1204G>A	NP_852122.1:p.Val402Ile
NM_181458.4:c.1204G>A MANE Select	NP_852123.1:p.Val402Ile
NM_181459.4:c.1204G>A	NP_852124.1:p.Val402Ile
NM_181460.4:c.1174-718G>A	NP_852125.1:n.1174-718G>A
NM_181461.4:c.1174-718G>A	NP_852126.1:n.1174-718G>A