Canonical Allele Identifier: CA66340489

Gene: PAX3

Linked Data

• dbSNP Id: rs1036270220
• gnomAD v4: 2-222295468-C-T
• MyVariant Identifiers: chr2:g.223160187C>T (hg19) ; chr2:g.222295468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222295468C>T , CM000664.2:g.222295468C>T	GRCh38
NC_000002.11:g.223160187C>T , CM000664.1:g.223160187C>T	GRCh37
NC_000002.10:g.222868431C>T	NCBI36
NG_011632.1:g.8514G>A
NG_021186.1:g.2322C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258387.6:c.451+60G>A	ENSP00000258387.5:n.451+60G>A
ENST00000336840.11:c.451+60G>A	ENSP00000338767.5:n.451+60G>A
ENST00000344493.9:c.451+60G>A	ENSP00000342092.4:n.451+60G>A
ENST00000350526.9:c.451+60G>A	ENSP00000343052.4:n.451+60G>A
ENST00000392070.7:c.451+60G>A MANE Select	ENSP00000375922.3:n.451+60G>A
ENST00000647467.1:n.832+60G>A
ENST00000258387.5:c.451+60G>A	ENSP00000258387.5:n.451+60G>A
ENST00000336840.10:c.451+60G>A	ENSP00000338767.5:n.451+60G>A
ENST00000344493.8:c.451+60G>A	ENSP00000342092.4:n.451+60G>A
ENST00000350526.8:c.451+60G>A	ENSP00000343052.4:n.451+60G>A
ENST00000392069.6:c.451+60G>A	ENSP00000375921.2:n.451+60G>A
ENST00000392070.6:c.451+60G>A	ENSP00000375922.2:n.451+60G>A
ENST00000409551.7:c.448+60G>A	ENSP00000386750.3:n.448+60G>A
ENST00000409828.7:c.451+60G>A	ENSP00000386817.3:n.451+60G>A
NM_000438.5:c.451+60G>A	NP_000429.2:n.451+60G>A
NM_001127366.2:c.448+60G>A	NP_001120838.1:n.448+60G>A
NM_013942.4:c.451+60G>A	NP_039230.1:n.451+60G>A
NM_181457.3:c.451+60G>A	NP_852122.1:n.451+60G>A
NM_181458.3:c.451+60G>A	NP_852123.1:n.451+60G>A
NM_181459.3:c.451+60G>A	NP_852124.1:n.451+60G>A
NM_181460.3:c.451+60G>A	NP_852125.1:n.451+60G>A
NM_181461.3:c.451+60G>A	NP_852126.1:n.451+60G>A
XM_011511278.1:c.595+60G>A	XP_011509580.1:n.595+60G>A
XM_011511280.1:c.595+60G>A	XP_011509582.1:n.595+60G>A
XM_011511281.1:c.595+60G>A	XP_011509583.1:n.595+60G>A
NM_000438.6:c.451+60G>A	NP_000429.2:n.451+60G>A
NM_001127366.3:c.448+60G>A	NP_001120838.1:n.448+60G>A
NM_013942.5:c.451+60G>A	NP_039230.1:n.451+60G>A
NM_181457.4:c.451+60G>A	NP_852122.1:n.451+60G>A
NM_181458.4:c.451+60G>A MANE Select	NP_852123.1:n.451+60G>A
NM_181459.4:c.451+60G>A	NP_852124.1:n.451+60G>A
NM_181460.4:c.451+60G>A	NP_852125.1:n.451+60G>A
NM_181461.4:c.451+60G>A	NP_852126.1:n.451+60G>A