Canonical Allele Identifier: CA2663322393

Gene: PAX3

Linked Data

• gnomAD v4: 2-222202237-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202237C>T , CM000664.2:g.222202237C>T	GRCh38
NC_000002.11:g.223066956C>T , CM000664.1:g.223066956C>T	GRCh37
NC_000002.10:g.222775200C>T	NCBI36
NG_011632.1:g.101745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-795G>A	ENSP00000338767.5:n.1174-795G>A
ENST00000344493.9:c.1174-795G>A	ENSP00000342092.4:n.1174-795G>A
ENST00000350526.9:c.1174-47G>A	ENSP00000343052.4:n.1174-47G>A
ENST00000392070.7:c.1174-47G>A MANE Select	ENSP00000375922.3:n.1174-47G>A
ENST00000464706.6:n.612-47G>A
ENST00000644699.1:n.500-47G>A
ENST00000646154.1:n.988-47G>A
ENST00000336840.10:c.1174-795G>A	ENSP00000338767.5:n.1174-795G>A
ENST00000344493.8:c.1174-795G>A	ENSP00000342092.4:n.1174-795G>A
ENST00000350526.8:c.1174-47G>A	ENSP00000343052.4:n.1174-47G>A
ENST00000392069.6:c.1174-47G>A	ENSP00000375921.2:n.1174-47G>A
ENST00000392070.6:c.1174-47G>A	ENSP00000375922.2:n.1174-47G>A
ENST00000409551.7:c.1171-47G>A	ENSP00000386750.3:n.1171-47G>A
ENST00000464706.5:n.598-47G>A
ENST00000555548.1:n.405-47G>A
NM_001127366.2:c.1171-47G>A	NP_001120838.1:n.1171-47G>A
NM_181457.3:c.1174-47G>A	NP_852122.1:n.1174-47G>A
NM_181458.3:c.1174-47G>A	NP_852123.1:n.1174-47G>A
NM_181459.3:c.1174-47G>A	NP_852124.1:n.1174-47G>A
NM_181460.3:c.1174-795G>A	NP_852125.1:n.1174-795G>A
NM_181461.3:c.1174-795G>A	NP_852126.1:n.1174-795G>A
XM_011511278.1:c.1318-47G>A	XP_011509580.1:n.1318-47G>A
XM_011511279.1:c.610-47G>A	XP_011509581.1:n.610-47G>A
NM_001127366.3:c.1171-47G>A	NP_001120838.1:n.1171-47G>A
NM_181457.4:c.1174-47G>A	NP_852122.1:n.1174-47G>A
NM_181458.4:c.1174-47G>A MANE Select	NP_852123.1:n.1174-47G>A
NM_181459.4:c.1174-47G>A	NP_852124.1:n.1174-47G>A
NM_181460.4:c.1174-795G>A	NP_852125.1:n.1174-795G>A
NM_181461.4:c.1174-795G>A	NP_852126.1:n.1174-795G>A