Canonical Allele Identifier: CA2135754
Gene: PAX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416595
ClinVar RCV Id: RCV001935784
dbSNP Id: rs140921855

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222295597T>C , CM000664.2:g.222295597T>C GRCh38
NC_000002.11:g.223160316T>C , CM000664.1:g.223160316T>C GRCh37
NC_000002.10:g.222868560T>C NCBI36
NG_011632.1:g.8385A>G
NG_021186.1:g.2451T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258387.6:c.382A>G ENSP00000258387.5:p.Met128Val
ENST00000336840.11:c.382A>G ENSP00000338767.5:p.Met128Val
ENST00000344493.9:c.382A>G ENSP00000342092.4:p.Met128Val
ENST00000350526.9:c.382A>G ENSP00000343052.4:p.Met128Val
ENST00000392070.7:c.382A>G MANE Select ENSP00000375922.3:p.Met128Val
ENST00000647467.1:n.763A>G
ENST00000258387.5:c.382A>G ENSP00000258387.5:p.Met128Val
ENST00000336840.10:c.382A>G ENSP00000338767.5:p.Met128Val
ENST00000344493.8:c.382A>G ENSP00000342092.4:p.Met128Val
ENST00000350526.8:c.382A>G ENSP00000343052.4:p.Met128Val
ENST00000392069.6:c.382A>G ENSP00000375921.2:p.Met128Val
ENST00000392070.6:c.382A>G ENSP00000375922.2:p.Met128Val
ENST00000409551.7:c.379A>G ENSP00000386750.3:p.Met127Val
ENST00000409828.7:c.382A>G ENSP00000386817.3:p.Met128Val
NM_000438.5:c.382A>G NP_000429.2:p.Met128Val
NM_001127366.2:c.379A>G NP_001120838.1:p.Met127Val
NM_013942.4:c.382A>G NP_039230.1:p.Met128Val
NM_181457.3:c.382A>G NP_852122.1:p.Met128Val
NM_181458.3:c.382A>G NP_852123.1:p.Met128Val
NM_181459.3:c.382A>G NP_852124.1:p.Met128Val
NM_181460.3:c.382A>G NP_852125.1:p.Met128Val
NM_181461.3:c.382A>G NP_852126.1:p.Met128Val
XM_011511278.1:c.526A>G XP_011509580.1:p.Met176Val
XM_011511280.1:c.526A>G XP_011509582.1:p.Met176Val
XM_011511281.1:c.526A>G XP_011509583.1:p.Met176Val
NM_000438.6:c.382A>G NP_000429.2:p.Met128Val
NM_001127366.3:c.379A>G NP_001120838.1:p.Met127Val
NM_013942.5:c.382A>G NP_039230.1:p.Met128Val
NM_181457.4:c.382A>G NP_852122.1:p.Met128Val
NM_181458.4:c.382A>G MANE Select NP_852123.1:p.Met128Val
NM_181459.4:c.382A>G NP_852124.1:p.Met128Val
NM_181460.4:c.382A>G NP_852125.1:p.Met128Val
NM_181461.4:c.382A>G NP_852126.1:p.Met128Val