Canonical Allele Identifier: CA351112430

Gene: PAX3

Linked Data

• ClinVar Variation Id: 1684545
• ClinVar RCV Id: RCV002246165
• dbSNP Id: rs2106095147
• MyVariant Identifiers: chr2:g.223096876A>G (hg19) ; chr2:g.222232157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232157A>G , CM000664.2:g.222232157A>G	GRCh38
NC_000002.11:g.223096876A>G , CM000664.1:g.223096876A>G	GRCh37
NC_000002.10:g.222805120A>G	NCBI36
NG_011632.1:g.71825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.713T>C	ENSP00000338767.5:p.Phe238Ser
ENST00000344493.9:c.713T>C	ENSP00000342092.4:p.Phe238Ser
ENST00000350526.9:c.713T>C	ENSP00000343052.4:p.Phe238Ser
ENST00000392070.7:c.713T>C MANE Select	ENSP00000375922.3:p.Phe238Ser
ENST00000646154.1:n.527T>C
ENST00000336840.10:c.713T>C	ENSP00000338767.5:p.Phe238Ser
ENST00000344493.8:c.713T>C	ENSP00000342092.4:p.Phe238Ser
ENST00000350526.8:c.713T>C	ENSP00000343052.4:p.Phe238Ser
ENST00000392069.6:c.713T>C	ENSP00000375921.2:p.Phe238Ser
ENST00000392070.6:c.713T>C	ENSP00000375922.2:p.Phe238Ser
ENST00000409551.7:c.710T>C	ENSP00000386750.3:p.Phe237Ser
NM_001127366.2:c.710T>C	NP_001120838.1:p.Phe237Ser
NM_181457.3:c.713T>C	NP_852122.1:p.Phe238Ser
NM_181458.3:c.713T>C	NP_852123.1:p.Phe238Ser
NM_181459.3:c.713T>C	NP_852124.1:p.Phe238Ser
NM_181460.3:c.713T>C	NP_852125.1:p.Phe238Ser
NM_181461.3:c.713T>C	NP_852126.1:p.Phe238Ser
XM_011511278.1:c.857T>C	XP_011509580.1:p.Phe286Ser
XM_011511279.1:c.149T>C	XP_011509581.1:p.Phe50Ser
XR_923945.1:n.287+10187A>G
NM_001127366.3:c.710T>C	NP_001120838.1:p.Phe237Ser
NM_181457.4:c.713T>C	NP_852122.1:p.Phe238Ser
NM_181458.4:c.713T>C MANE Select	NP_852123.1:p.Phe238Ser
NM_181459.4:c.713T>C	NP_852124.1:p.Phe238Ser
NM_181460.4:c.713T>C	NP_852125.1:p.Phe238Ser
NM_181461.4:c.713T>C	NP_852126.1:p.Phe238Ser