Canonical Allele Identifier: CA348302550
Gene: PAX8 HGNC NCBI
PAX8-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426842
ClinVar RCV Id: RCV000490149
dbSNP Id: rs1085307828

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.113244538C>G , CM000664.2:g.113244538C>G GRCh38
NC_000002.11:g.114002115C>G , CM000664.1:g.114002115C>G GRCh37
NC_000002.10:g.113718585C>G NCBI36
NG_012384.1:g.39384G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000468980.4:c.278G>C (PAX8) ENSP00000451240.2:p.Gly93Ala
ENST00000429538.8:c.278G>C (PAX8) MANE Select ENSP00000395498.3:p.Gly93Ala
ENST00000681162.1:c.278G>C (PAX8) ENSP00000505425.1:p.Gly93Ala
ENST00000263334.9:c.278G>C (PAX8) ENSP00000263334.6:p.Gly93Ala
ENST00000263335.11:c.278G>C (PAX8) ENSP00000263335.7:p.Gly93Ala
ENST00000348715.9:c.278G>C (PAX8) ENSP00000314750.5:p.Gly93Ala
ENST00000397647.7:c.278G>C (PAX8) ENSP00000380768.3:p.Gly93Ala
ENST00000429538.7:c.278G>C (PAX8) ENSP00000395498.3:p.Gly93Ala
ENST00000467778.5:n.442G>C (PAX8)
ENST00000554830.2:c.-40-1760G>C (PAX8) ENSP00000451213.2:n.-40-1760G>C
NM_003466.3:c.278G>C (PAX8) NP_003457.1:p.Gly93Ala
NM_013952.3:c.278G>C (PAX8) NP_039246.1:p.Gly93Ala
NM_013953.3:c.278G>C (PAX8) NP_039247.1:p.Gly93Ala
NM_013992.3:c.278G>C (PAX8) NP_054698.1:p.Gly93Ala
NR_015377.2:n.355-6229C>G (PAX8-AS1)
XM_011511790.1:c.449G>C (PAX8) XP_011510092.1:p.Gly150Ala
XM_011511791.1:c.449G>C (PAX8) XP_011510093.1:p.Gly150Ala
XM_011511792.1:c.449G>C (PAX8) XP_011510094.1:p.Gly150Ala
XM_011511793.1:c.449G>C (PAX8) XP_011510095.1:p.Gly150Ala
XM_011511794.1:c.278G>C (PAX8) XP_011510096.1:p.Gly93Ala
XR_923021.1:n.476G>C (PAX8)
NM_003466.4:c.278G>C (PAX8) MANE Select NP_003457.1:p.Gly93Ala
NM_013952.4:c.278G>C (PAX8) NP_039246.1:p.Gly93Ala
NM_013953.4:c.278G>C (PAX8) NP_039247.1:p.Gly93Ala
NM_013992.4:c.278G>C (PAX8) NP_054698.1:p.Gly93Ala