Canonical Allele Identifier: CA1839996

Gene: PAX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113235472A>C , CM000664.2:g.113235472A>C	GRCh38
NC_000002.11:g.113993049A>C , CM000664.1:g.113993049A>C	GRCh37
NC_000002.10:g.113709520A>C	NCBI36
NG_012384.1:g.48450T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003466.4:c.1009T>G MANE Select	NP_003457.1:p.Ser337Ala
ENST00000429538.8:c.1009T>G MANE Select	ENSP00000395498.3:p.Ser337Ala
NM_003466.3:c.1009T>G	NP_003457.1:p.Ser337Ala
NM_013952.3:c.930T>G	NP_039246.1:p.Ala310=
NM_013952.4:c.930T>G	NP_039246.1:p.Ala310=
NM_013953.3:c.777+6079T>G	NP_039247.1:n.777+6079T>G
NM_013953.4:c.777+6079T>G	NP_039247.1:n.777+6079T>G
NM_013992.3:c.777+6079T>G	NP_054698.1:n.777+6079T>G
NM_013992.4:c.777+6079T>G	NP_054698.1:n.777+6079T>G
ENST00000263334.9:c.1009T>G	ENSP00000263334.6:p.Ser337Ala
ENST00000263335.11:c.777+6079T>G	ENSP00000263335.7:n.777+6079T>G
ENST00000348715.9:c.930T>G	ENSP00000314750.5:p.Ala310=
ENST00000397647.7:c.777+6079T>G	ENSP00000380768.3:n.777+6079T>G
ENST00000429538.7:c.1009T>G	ENSP00000395498.3:p.Ser337Ala
ENST00000468980.3:c.254+1129T>G
ENST00000468980.4:c.898+1129T>G	ENSP00000451240.2:n.898+1129T>G
ENST00000485840.1:n.1019T>G
ENST00000497038.6:c.-87T>G	ENSP00000451618.3:n.-87T>G
ENST00000554352.1:n.440T>G
ENST00000681162.1:c.1009T>G	ENSP00000505425.1:p.Ser337Ala
XM_011511790.1:c.1180T>G	XP_011510092.1:p.Ser394Ala
XM_011511791.1:c.1180T>G	XP_011510093.1:p.Ser394Ala
XM_011511792.1:c.1101T>G	XP_011510094.1:p.Ala367=
XM_011511793.1:c.1069+1129T>G	XP_011510095.1:n.1069+1129T>G
XM_011511794.1:c.898+1129T>G	XP_011510096.1:n.898+1129T>G
XR_923021.1:n.1128T>G