Canonical Allele Identifier: CA2663322999

Gene: PAX3

Linked Data

• gnomAD v4: 2-222232368-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232368C>T , CM000664.2:g.222232368C>T	GRCh38
NC_000002.11:g.223097087C>T , CM000664.1:g.223097087C>T	GRCh37
NC_000002.10:g.222805331C>T	NCBI36
NG_011632.1:g.71614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.587-85G>A	ENSP00000338767.5:n.587-85G>A
ENST00000344493.9:c.587-85G>A	ENSP00000342092.4:n.587-85G>A
ENST00000350526.9:c.587-85G>A	ENSP00000343052.4:n.587-85G>A
ENST00000392070.7:c.587-85G>A MANE Select	ENSP00000375922.3:n.587-85G>A
ENST00000646154.1:n.401-85G>A
ENST00000336840.10:c.587-85G>A	ENSP00000338767.5:n.587-85G>A
ENST00000344493.8:c.587-85G>A	ENSP00000342092.4:n.587-85G>A
ENST00000350526.8:c.587-85G>A	ENSP00000343052.4:n.587-85G>A
ENST00000392069.6:c.587-85G>A	ENSP00000375921.2:n.587-85G>A
ENST00000392070.6:c.587-85G>A	ENSP00000375922.2:n.587-85G>A
ENST00000409551.7:c.584-85G>A	ENSP00000386750.3:n.584-85G>A
NM_001127366.2:c.584-85G>A	NP_001120838.1:n.584-85G>A
NM_181457.3:c.587-85G>A	NP_852122.1:n.587-85G>A
NM_181458.3:c.587-85G>A	NP_852123.1:n.587-85G>A
NM_181459.3:c.587-85G>A	NP_852124.1:n.587-85G>A
NM_181460.3:c.587-85G>A	NP_852125.1:n.587-85G>A
NM_181461.3:c.587-85G>A	NP_852126.1:n.587-85G>A
XM_011511278.1:c.731-85G>A	XP_011509580.1:n.731-85G>A
XM_011511279.1:c.23-85G>A	XP_011509581.1:n.23-85G>A
XR_923945.1:n.287+10398C>T
NM_001127366.3:c.584-85G>A	NP_001120838.1:n.584-85G>A
NM_181457.4:c.587-85G>A	NP_852122.1:n.587-85G>A
NM_181458.4:c.587-85G>A MANE Select	NP_852123.1:n.587-85G>A
NM_181459.4:c.587-85G>A	NP_852124.1:n.587-85G>A
NM_181460.4:c.587-85G>A	NP_852125.1:n.587-85G>A
NM_181461.4:c.587-85G>A	NP_852126.1:n.587-85G>A