Canonical Allele Identifier: CA348312425

Gene: PAX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113218606G>A , CM000664.2:g.113218606G>A	GRCh38
NC_000002.11:g.113976183G>A , CM000664.1:g.113976183G>A	GRCh37
NC_000002.10:g.113692654G>A	NCBI36
NG_012384.1:g.65316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468980.4:c.1091C>T	ENSP00000451240.2:p.Ser364Phe
ENST00000429538.8:c.1280C>T MANE Select	ENSP00000395498.3:p.Ser427Phe
ENST00000681162.1:c.1277-16C>T	ENSP00000505425.1:n.1277-16C>T
ENST00000263334.9:c.1280C>T	ENSP00000263334.6:p.Ser427Phe
ENST00000263335.11:c.*4C>T	ENSP00000263335.7:n.*4C>T
ENST00000348715.9:c.*4C>T	ENSP00000314750.5:n.*4C>T
ENST00000397647.7:c.*4C>T	ENSP00000380768.3:n.*4C>T
ENST00000429538.7:c.1280C>T	ENSP00000395498.3:p.Ser427Phe
ENST00000465084.1:c.299C>T
ENST00000468980.3:c.447C>T
ENST00000480684.1:n.390C>T
ENST00000497038.6:c.185C>T	ENSP00000451618.3:p.Ser62Phe
NM_003466.3:c.1280C>T	NP_003457.1:p.Ser427Phe
NM_013952.3:c.*4C>T	NP_039246.1:n.*4C>T
NM_013953.3:c.*4C>T	NP_039247.1:n.*4C>T
NM_013992.3:c.*4C>T	NP_054698.1:n.*4C>T
XM_011511790.1:c.1451C>T	XP_011510092.1:p.Ser484Phe
XM_011511791.1:c.*4C>T	XP_011510093.1:n.*4C>T
XM_011511792.1:c.*4C>T	XP_011510094.1:n.*4C>T
XM_011511793.1:c.1262C>T	XP_011510095.1:p.Ser421Phe
XM_011511794.1:c.1091C>T	XP_011510096.1:p.Ser364Phe
XR_923021.1:n.1455C>T
NM_003466.4:c.1280C>T MANE Select	NP_003457.1:p.Ser427Phe
NM_013952.4:c.*4C>T	NP_039246.1:n.*4C>T
NM_013953.4:c.*4C>T	NP_039247.1:n.*4C>T
NM_013992.4:c.*4C>T	NP_054698.1:n.*4C>T