Canonical Allele Identifier: CA339658

Gene: PAX3

Linked Data

• ClinVar Variation Id: 218940
• ClinVar RCV Id: RCV000203286 ; RCV000213796 ; RCV000293967 ; RCV000348942 ; RCV000626405 ; RCV000992502
• dbSNP Id: rs2234675
• ExAC: 2:223085955 G / T
• gnomAD v2: 2-223085955-G-T
• gnomAD v3: 2-222221236-G-T
• gnomAD v4: 2-222221236-G-T
• MyVariant Identifiers: chr2:g.223085955G>T (hg19) ; chr2:g.222221236G>T (hg38)
• PubMed: PMID:25736269

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221236G>T , CM000664.2:g.222221236G>T	GRCh38
NC_000002.11:g.223085955G>T , CM000664.1:g.223085955G>T	GRCh37
NC_000002.10:g.222794199G>T	NCBI36
NG_011632.1:g.82746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.944C>A	ENSP00000338767.5:p.Thr315Lys
ENST00000344493.9:c.944C>A	ENSP00000342092.4:p.Thr315Lys
ENST00000350526.9:c.944C>A	ENSP00000343052.4:p.Thr315Lys
ENST00000392070.7:c.944C>A MANE Select	ENSP00000375922.3:p.Thr315Lys
ENST00000464706.6:n.382C>A
ENST00000644699.1:n.270C>A
ENST00000644937.1:n.216C>A
ENST00000646154.1:n.758C>A
ENST00000336840.10:c.944C>A	ENSP00000338767.5:p.Thr315Lys
ENST00000344493.8:c.944C>A	ENSP00000342092.4:p.Thr315Lys
ENST00000350526.8:c.944C>A	ENSP00000343052.4:p.Thr315Lys
ENST00000392069.6:c.944C>A	ENSP00000375921.2:p.Thr315Lys
ENST00000392070.6:c.944C>A	ENSP00000375922.2:p.Thr315Lys
ENST00000409551.7:c.941C>A	ENSP00000386750.3:p.Thr314Lys
ENST00000464706.5:n.368C>A
ENST00000555548.1:n.175C>A
NM_001127366.2:c.941C>A	NP_001120838.1:p.Thr314Lys
NM_181457.3:c.944C>A	NP_852122.1:p.Thr315Lys
NM_181458.3:c.944C>A	NP_852123.1:p.Thr315Lys
NM_181459.3:c.944C>A	NP_852124.1:p.Thr315Lys
NM_181460.3:c.944C>A	NP_852125.1:p.Thr315Lys
NM_181461.3:c.944C>A	NP_852126.1:p.Thr315Lys
XM_011511278.1:c.1088C>A	XP_011509580.1:p.Thr363Lys
XM_011511279.1:c.380C>A	XP_011509581.1:p.Thr127Lys
NM_001127366.3:c.941C>A	NP_001120838.1:p.Thr314Lys
NM_181457.4:c.944C>A	NP_852122.1:p.Thr315Lys
NM_181458.4:c.944C>A MANE Select	NP_852123.1:p.Thr315Lys
NM_181459.4:c.944C>A	NP_852124.1:p.Thr315Lys
NM_181460.4:c.944C>A	NP_852125.1:p.Thr315Lys
NM_181461.4:c.944C>A	NP_852126.1:p.Thr315Lys