Canonical Allele Identifier: CA765211295

Gene: PAX3

Linked Data

• dbSNP Id: rs1443819690
• gnomAD v4: 2-222231988-G-A
• MyVariant Identifiers: chr2:g.223096707G>A (hg19) ; chr2:g.222231988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222231988G>A , CM000664.2:g.222231988G>A	GRCh38
NC_000002.11:g.223096707G>A , CM000664.1:g.223096707G>A	GRCh37
NC_000002.10:g.222804951G>A	NCBI36
NG_011632.1:g.71994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.792+90C>T	ENSP00000338767.5:n.792+90C>T
ENST00000344493.9:c.792+90C>T	ENSP00000342092.4:n.792+90C>T
ENST00000350526.9:c.792+90C>T	ENSP00000343052.4:n.792+90C>T
ENST00000392070.7:c.792+90C>T MANE Select	ENSP00000375922.3:n.792+90C>T
ENST00000646154.1:n.606+90C>T
ENST00000336840.10:c.792+90C>T	ENSP00000338767.5:n.792+90C>T
ENST00000344493.8:c.792+90C>T	ENSP00000342092.4:n.792+90C>T
ENST00000350526.8:c.792+90C>T	ENSP00000343052.4:n.792+90C>T
ENST00000392069.6:c.792+90C>T	ENSP00000375921.2:n.792+90C>T
ENST00000392070.6:c.792+90C>T	ENSP00000375922.2:n.792+90C>T
ENST00000409551.7:c.789+90C>T	ENSP00000386750.3:n.789+90C>T
NM_001127366.2:c.789+90C>T	NP_001120838.1:n.789+90C>T
NM_181457.3:c.792+90C>T	NP_852122.1:n.792+90C>T
NM_181458.3:c.792+90C>T	NP_852123.1:n.792+90C>T
NM_181459.3:c.792+90C>T	NP_852124.1:n.792+90C>T
NM_181460.3:c.792+90C>T	NP_852125.1:n.792+90C>T
NM_181461.3:c.792+90C>T	NP_852126.1:n.792+90C>T
XM_011511278.1:c.936+90C>T	XP_011509580.1:n.936+90C>T
XM_011511279.1:c.228+90C>T	XP_011509581.1:n.228+90C>T
XR_923945.1:n.287+10018G>A
XR_923946.1:n.288-24G>A
NM_001127366.3:c.789+90C>T	NP_001120838.1:n.789+90C>T
NM_181457.4:c.792+90C>T	NP_852122.1:n.792+90C>T
NM_181458.4:c.792+90C>T MANE Select	NP_852123.1:n.792+90C>T
NM_181459.4:c.792+90C>T	NP_852124.1:n.792+90C>T
NM_181460.4:c.792+90C>T	NP_852125.1:n.792+90C>T
NM_181461.4:c.792+90C>T	NP_852126.1:n.792+90C>T