Canonical Allele Identifier: CA1839937

Gene: PAX8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113227140C>T , CM000664.2:g.113227140C>T	GRCh38
NC_000002.11:g.113984717C>T , CM000664.1:g.113984717C>T	GRCh37
NC_000002.10:g.113701188C>T	NCBI36
NG_012384.1:g.56782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468980.4:c.1000+15G>A	ENSP00000451240.2:n.1000+15G>A
ENST00000429538.8:c.1189+15G>A MANE Select	ENSP00000395498.3:n.1189+15G>A
ENST00000681162.1:c.1189+15G>A	ENSP00000505425.1:n.1189+15G>A
ENST00000263334.9:c.1189+15G>A	ENSP00000263334.6:n.1189+15G>A
ENST00000263335.11:c.879+15G>A	ENSP00000263335.7:n.879+15G>A
ENST00000348715.9:c.1110+15G>A	ENSP00000314750.5:n.1110+15G>A
ENST00000397647.7:c.778-6962G>A	ENSP00000380768.3:n.778-6962G>A
ENST00000429538.7:c.1189+15G>A	ENSP00000395498.3:n.1189+15G>A
ENST00000465084.1:c.167G>A
ENST00000468980.3:c.356+15G>A
ENST00000485840.1:n.1214G>A
ENST00000497038.6:c.94+15G>A	ENSP00000451618.3:n.94+15G>A
NM_003466.3:c.1189+15G>A	NP_003457.1:n.1189+15G>A
NM_013952.3:c.1110+15G>A	NP_039246.1:n.1110+15G>A
NM_013953.3:c.879+15G>A	NP_039247.1:n.879+15G>A
NM_013992.3:c.778-6962G>A	NP_054698.1:n.778-6962G>A
XM_011511790.1:c.1360+15G>A	XP_011510092.1:n.1360+15G>A
XM_011511791.1:c.1375G>A	XP_011510093.1:p.Gly459Ser
XM_011511792.1:c.1281+15G>A	XP_011510094.1:n.1281+15G>A
XM_011511793.1:c.1171+15G>A	XP_011510095.1:n.1171+15G>A
XM_011511794.1:c.1000+15G>A	XP_011510096.1:n.1000+15G>A
XR_923021.1:n.1323G>A
NM_003466.4:c.1189+15G>A MANE Select	NP_003457.1:n.1189+15G>A
NM_013952.4:c.1110+15G>A	NP_039246.1:n.1110+15G>A
NM_013953.4:c.879+15G>A	NP_039247.1:n.879+15G>A
NM_013992.4:c.778-6962G>A	NP_054698.1:n.778-6962G>A