Canonical Allele Identifier: CA116694
Gene: PAX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4216
ClinVar RCV Id: RCV000004437
dbSNP Id: rs104893654

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222297031A>G , CM000664.2:g.222297031A>G GRCh38
NC_000002.11:g.223161750A>G , CM000664.1:g.223161750A>G GRCh37
NC_000002.10:g.222869994A>G NCBI36
NG_011632.1:g.6951T>C
NG_021186.1:g.3885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258387.6:c.268T>C ENSP00000258387.5:p.Tyr90His
ENST00000336840.11:c.268T>C ENSP00000338767.5:p.Tyr90His
ENST00000344493.9:c.268T>C ENSP00000342092.4:p.Tyr90His
ENST00000350526.9:c.268T>C ENSP00000343052.4:p.Tyr90His
ENST00000392070.7:c.268T>C MANE Select ENSP00000375922.3:p.Tyr90His
ENST00000647467.1:n.649T>C
ENST00000258387.5:c.268T>C ENSP00000258387.5:p.Tyr90His
ENST00000336840.10:c.268T>C ENSP00000338767.5:p.Tyr90His
ENST00000344493.8:c.268T>C ENSP00000342092.4:p.Tyr90His
ENST00000350526.8:c.268T>C ENSP00000343052.4:p.Tyr90His
ENST00000392069.6:c.268T>C ENSP00000375921.2:p.Tyr90His
ENST00000392070.6:c.268T>C ENSP00000375922.2:p.Tyr90His
ENST00000409551.7:c.268T>C ENSP00000386750.3:p.Tyr90His
ENST00000409828.7:c.268T>C ENSP00000386817.3:p.Tyr90His
NM_000438.5:c.268T>C NP_000429.2:p.Tyr90His
NM_001127366.2:c.268T>C NP_001120838.1:p.Tyr90His
NM_013942.4:c.268T>C NP_039230.1:p.Tyr90His
NM_181457.3:c.268T>C NP_852122.1:p.Tyr90His
NM_181458.3:c.268T>C NP_852123.1:p.Tyr90His
NM_181459.3:c.268T>C NP_852124.1:p.Tyr90His
NM_181460.3:c.268T>C NP_852125.1:p.Tyr90His
NM_181461.3:c.268T>C NP_852126.1:p.Tyr90His
XM_011511278.1:c.412T>C XP_011509580.1:p.Tyr138His
XM_011511280.1:c.412T>C XP_011509582.1:p.Tyr138His
XM_011511281.1:c.412T>C XP_011509583.1:p.Tyr138His
NM_000438.6:c.268T>C NP_000429.2:p.Tyr90His
NM_001127366.3:c.268T>C NP_001120838.1:p.Tyr90His
NM_013942.5:c.268T>C NP_039230.1:p.Tyr90His
NM_181457.4:c.268T>C NP_852122.1:p.Tyr90His
NM_181458.4:c.268T>C MANE Select NP_852123.1:p.Tyr90His
NM_181459.4:c.268T>C NP_852124.1:p.Tyr90His
NM_181460.4:c.268T>C NP_852125.1:p.Tyr90His
NM_181461.4:c.268T>C NP_852126.1:p.Tyr90His