Canonical Allele Identifier: CA351115934

Gene: PAX3

Linked Data

• dbSNP Id: rs1483648474
• gnomAD v3: 2-222202190-C-T
• gnomAD v4: 2-222202190-C-T
• MyVariant Identifiers: chr2:g.223066909C>T (hg19) ; chr2:g.222202190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202190C>T , CM000664.2:g.222202190C>T	GRCh38
NC_000002.11:g.223066909C>T , CM000664.1:g.223066909C>T	GRCh37
NC_000002.10:g.222775153C>T	NCBI36
NG_011632.1:g.101792G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-748G>A	ENSP00000338767.5:n.1174-748G>A
ENST00000344493.9:c.1174-748G>A	ENSP00000342092.4:n.1174-748G>A
ENST00000350526.9:c.1174G>A	ENSP00000343052.4:p.Val392Ile
ENST00000392070.7:c.1174G>A MANE Select	ENSP00000375922.3:p.Val392Ile
ENST00000464706.6:n.612G>A
ENST00000644699.1:n.500G>A
ENST00000646154.1:n.988G>A
ENST00000336840.10:c.1174-748G>A	ENSP00000338767.5:n.1174-748G>A
ENST00000344493.8:c.1174-748G>A	ENSP00000342092.4:n.1174-748G>A
ENST00000350526.8:c.1174G>A	ENSP00000343052.4:p.Val392Ile
ENST00000392069.6:c.1174G>A	ENSP00000375921.2:p.Val392Ile
ENST00000392070.6:c.1174G>A	ENSP00000375922.2:p.Val392Ile
ENST00000409551.7:c.1171G>A	ENSP00000386750.3:p.Val391Ile
ENST00000464706.5:n.598G>A
ENST00000555548.1:n.405G>A
NM_001127366.2:c.1171G>A	NP_001120838.1:p.Val391Ile
NM_181457.3:c.1174G>A	NP_852122.1:p.Val392Ile
NM_181458.3:c.1174G>A	NP_852123.1:p.Val392Ile
NM_181459.3:c.1174G>A	NP_852124.1:p.Val392Ile
NM_181460.3:c.1174-748G>A	NP_852125.1:n.1174-748G>A
NM_181461.3:c.1174-748G>A	NP_852126.1:n.1174-748G>A
XM_011511278.1:c.1318G>A	XP_011509580.1:p.Val440Ile
XM_011511279.1:c.610G>A	XP_011509581.1:p.Val204Ile
NM_001127366.3:c.1171G>A	NP_001120838.1:p.Val391Ile
NM_181457.4:c.1174G>A	NP_852122.1:p.Val392Ile
NM_181458.4:c.1174G>A MANE Select	NP_852123.1:p.Val392Ile
NM_181459.4:c.1174G>A	NP_852124.1:p.Val392Ile
NM_181460.4:c.1174-748G>A	NP_852125.1:n.1174-748G>A
NM_181461.4:c.1174-748G>A	NP_852126.1:n.1174-748G>A