Canonical Allele Identifier: CA253048

Gene: PAX3

Linked Data

• ClinVar Variation Id: 4206
• ClinVar RCV Id: RCV000004426
• dbSNP Id: rs104893650
• MyVariant Identifiers: chr2:g.223161869G>A (hg19) ; chr2:g.222297150G>A (hg38)
• PubMed: PMID:1347149 ; PMID:1887852

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222297150G>A , CM000664.2:g.222297150G>A	GRCh38
NC_000002.11:g.223161869G>A , CM000664.1:g.223161869G>A	GRCh37
NC_000002.10:g.222870113G>A	NCBI36
NG_011632.1:g.6832C>T
NG_021186.1:g.4004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.149C>T	ENSP00000258387.5:p.Pro50Leu
ENST00000336840.11:c.149C>T	ENSP00000338767.5:p.Pro50Leu
ENST00000344493.9:c.149C>T	ENSP00000342092.4:p.Pro50Leu
ENST00000350526.9:c.149C>T	ENSP00000343052.4:p.Pro50Leu
ENST00000392070.7:c.149C>T MANE Select	ENSP00000375922.3:p.Pro50Leu
ENST00000647467.1:n.530C>T
ENST00000258387.5:c.149C>T	ENSP00000258387.5:p.Pro50Leu
ENST00000336840.10:c.149C>T	ENSP00000338767.5:p.Pro50Leu
ENST00000344493.8:c.149C>T	ENSP00000342092.4:p.Pro50Leu
ENST00000350526.8:c.149C>T	ENSP00000343052.4:p.Pro50Leu
ENST00000392069.6:c.149C>T	ENSP00000375921.2:p.Pro50Leu
ENST00000392070.6:c.149C>T	ENSP00000375922.2:p.Pro50Leu
ENST00000409551.7:c.149C>T	ENSP00000386750.3:p.Pro50Leu
ENST00000409828.7:c.149C>T	ENSP00000386817.3:p.Pro50Leu
NM_000438.5:c.149C>T	NP_000429.2:p.Pro50Leu
NM_001127366.2:c.149C>T	NP_001120838.1:p.Pro50Leu
NM_013942.4:c.149C>T	NP_039230.1:p.Pro50Leu
NM_181457.3:c.149C>T	NP_852122.1:p.Pro50Leu
NM_181458.3:c.149C>T	NP_852123.1:p.Pro50Leu
NM_181459.3:c.149C>T	NP_852124.1:p.Pro50Leu
NM_181460.3:c.149C>T	NP_852125.1:p.Pro50Leu
NM_181461.3:c.149C>T	NP_852126.1:p.Pro50Leu
XM_011511278.1:c.293C>T	XP_011509580.1:p.Pro98Leu
XM_011511280.1:c.293C>T	XP_011509582.1:p.Pro98Leu
XM_011511281.1:c.293C>T	XP_011509583.1:p.Pro98Leu
NM_000438.6:c.149C>T	NP_000429.2:p.Pro50Leu
NM_001127366.3:c.149C>T	NP_001120838.1:p.Pro50Leu
NM_013942.5:c.149C>T	NP_039230.1:p.Pro50Leu
NM_181457.4:c.149C>T	NP_852122.1:p.Pro50Leu
NM_181458.4:c.149C>T MANE Select	NP_852123.1:p.Pro50Leu
NM_181459.4:c.149C>T	NP_852124.1:p.Pro50Leu
NM_181460.4:c.149C>T	NP_852125.1:p.Pro50Leu
NM_181461.4:c.149C>T	NP_852126.1:p.Pro50Leu