Canonical Allele Identifier: CA348315598

Gene: PAX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113235470G>A , CM000664.2:g.113235470G>A	GRCh38
NC_000002.11:g.113993047G>A , CM000664.1:g.113993047G>A	GRCh37
NC_000002.10:g.113709518G>A	NCBI36
NG_012384.1:g.48452C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003466.4:c.1011C>T MANE Select	NP_003457.1:p.Ser337=
ENST00000429538.8:c.1011C>T MANE Select	ENSP00000395498.3:p.Ser337=
NM_003466.3:c.1011C>T	NP_003457.1:p.Ser337=
NM_013952.3:c.932C>T	NP_039246.1:p.Pro311Leu
NM_013952.4:c.932C>T	NP_039246.1:p.Pro311Leu
NM_013953.3:c.777+6081C>T	NP_039247.1:n.777+6081C>T
NM_013953.4:c.777+6081C>T	NP_039247.1:n.777+6081C>T
NM_013992.3:c.777+6081C>T	NP_054698.1:n.777+6081C>T
NM_013992.4:c.777+6081C>T	NP_054698.1:n.777+6081C>T
ENST00000263334.9:c.1011C>T	ENSP00000263334.6:p.Ser337=
ENST00000263335.11:c.777+6081C>T	ENSP00000263335.7:n.777+6081C>T
ENST00000348715.9:c.932C>T	ENSP00000314750.5:p.Pro311Leu
ENST00000397647.7:c.777+6081C>T	ENSP00000380768.3:n.777+6081C>T
ENST00000429538.7:c.1011C>T	ENSP00000395498.3:p.Ser337=
ENST00000468980.3:c.254+1131C>T
ENST00000468980.4:c.898+1131C>T	ENSP00000451240.2:n.898+1131C>T
ENST00000485840.1:n.1021C>T
ENST00000497038.6:c.-85C>T	ENSP00000451618.3:n.-85C>T
ENST00000554352.1:n.442C>T
ENST00000681162.1:c.1011C>T	ENSP00000505425.1:p.Ser337=
XM_011511790.1:c.1182C>T	XP_011510092.1:p.Ser394=
XM_011511791.1:c.1182C>T	XP_011510093.1:p.Ser394=
XM_011511792.1:c.1103C>T	XP_011510094.1:p.Pro368Leu
XM_011511793.1:c.1069+1131C>T	XP_011510095.1:n.1069+1131C>T
XM_011511794.1:c.898+1131C>T	XP_011510096.1:n.898+1131C>T
XR_923021.1:n.1130C>T