Canonical Allele Identifier: CA351116580

Gene: PAX3

Linked Data

• dbSNP Id: rs1574647943
• gnomAD v4: 2-222221299-A-G
• MyVariant Identifiers: chr2:g.223086018A>G (hg19) ; chr2:g.222221299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221299A>G , CM000664.2:g.222221299A>G	GRCh38
NC_000002.11:g.223086018A>G , CM000664.1:g.223086018A>G	GRCh37
NC_000002.10:g.222794262A>G	NCBI36
NG_011632.1:g.82683T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.881T>C	ENSP00000338767.5:p.Phe294Ser
ENST00000344493.9:c.881T>C	ENSP00000342092.4:p.Phe294Ser
ENST00000350526.9:c.881T>C	ENSP00000343052.4:p.Phe294Ser
ENST00000392070.7:c.881T>C MANE Select	ENSP00000375922.3:p.Phe294Ser
ENST00000464706.6:n.319T>C
ENST00000644699.1:n.207T>C
ENST00000644937.1:n.153T>C
ENST00000646154.1:n.695T>C
ENST00000336840.10:c.881T>C	ENSP00000338767.5:p.Phe294Ser
ENST00000344493.8:c.881T>C	ENSP00000342092.4:p.Phe294Ser
ENST00000350526.8:c.881T>C	ENSP00000343052.4:p.Phe294Ser
ENST00000392069.6:c.881T>C	ENSP00000375921.2:p.Phe294Ser
ENST00000392070.6:c.881T>C	ENSP00000375922.2:p.Phe294Ser
ENST00000409551.7:c.878T>C	ENSP00000386750.3:p.Phe293Ser
ENST00000464706.5:n.305T>C
ENST00000555548.1:n.112T>C
NM_001127366.2:c.878T>C	NP_001120838.1:p.Phe293Ser
NM_181457.3:c.881T>C	NP_852122.1:p.Phe294Ser
NM_181458.3:c.881T>C	NP_852123.1:p.Phe294Ser
NM_181459.3:c.881T>C	NP_852124.1:p.Phe294Ser
NM_181460.3:c.881T>C	NP_852125.1:p.Phe294Ser
NM_181461.3:c.881T>C	NP_852126.1:p.Phe294Ser
XM_011511278.1:c.1025T>C	XP_011509580.1:p.Phe342Ser
XM_011511279.1:c.317T>C	XP_011509581.1:p.Phe106Ser
NM_001127366.3:c.878T>C	NP_001120838.1:p.Phe293Ser
NM_181457.4:c.881T>C	NP_852122.1:p.Phe294Ser
NM_181458.4:c.881T>C MANE Select	NP_852123.1:p.Phe294Ser
NM_181459.4:c.881T>C	NP_852124.1:p.Phe294Ser
NM_181460.4:c.881T>C	NP_852125.1:p.Phe294Ser
NM_181461.4:c.881T>C	NP_852126.1:p.Phe294Ser