Canonical Allele Identifier: CA10612022

Gene: PAX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113217489T>G , CM000664.2:g.113217489T>G	GRCh38
NC_000002.11:g.113975066T>G , CM000664.1:g.113975066T>G	GRCh37
NC_000002.10:g.113691537T>G	NCBI36
NG_012384.1:g.66433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468980.4:c.*1044A>C	ENSP00000451240.2:n.*1044A>C
ENST00000429538.8:c.*1044A>C MANE Select	ENSP00000395498.3:n.*1044A>C
ENST00000681162.1:c.*1016A>C	ENSP00000505425.1:n.*1016A>C
ENST00000263334.9:c.*1044A>C	ENSP00000263334.6:n.*1044A>C
ENST00000263335.11:c.*1121A>C	ENSP00000263335.7:n.*1121A>C
ENST00000348715.9:c.*1121A>C	ENSP00000314750.5:n.*1121A>C
ENST00000397647.7:c.*1121A>C	ENSP00000380768.3:n.*1121A>C
ENST00000429538.7:c.*1044A>C	ENSP00000395498.3:n.*1044A>C
NM_003466.3:c.*1044A>C	NP_003457.1:n.*1044A>C
NM_013952.3:c.*1121A>C	NP_039246.1:n.*1121A>C
NM_013953.3:c.*1121A>C	NP_039247.1:n.*1121A>C
NM_013992.3:c.*1121A>C	NP_054698.1:n.*1121A>C
XM_011511790.1:c.*1044A>C	XP_011510092.1:n.*1044A>C
XM_011511791.1:c.*1121A>C	XP_011510093.1:n.*1121A>C
XM_011511792.1:c.*1121A>C	XP_011510094.1:n.*1121A>C
XM_011511793.1:c.*1044A>C	XP_011510095.1:n.*1044A>C
XM_011511794.1:c.*1044A>C	XP_011510096.1:n.*1044A>C
XR_923021.1:n.2572A>C
NM_003466.4:c.*1044A>C MANE Select	NP_003457.1:n.*1044A>C
NM_013952.4:c.*1121A>C	NP_039246.1:n.*1121A>C
NM_013953.4:c.*1121A>C	NP_039247.1:n.*1121A>C
NM_013992.4:c.*1121A>C	NP_054698.1:n.*1121A>C