Canonical Allele Identifier: CA348315657

Gene: PAX8

Linked Data

• MyVariant Identifiers: chr2:g.113993071A>T (hg19) ; chr2:g.113235494A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113235494A>T , CM000664.2:g.113235494A>T	GRCh38
NC_000002.11:g.113993071A>T , CM000664.1:g.113993071A>T	GRCh37
NC_000002.10:g.113709542A>T	NCBI36
NG_012384.1:g.48428T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468980.4:c.898+1107T>A	ENSP00000451240.2:n.898+1107T>A
ENST00000429538.8:c.987T>A MANE Select	ENSP00000395498.3:p.Phe329Leu
ENST00000681162.1:c.987T>A	ENSP00000505425.1:p.Phe329Leu
ENST00000263334.9:c.987T>A	ENSP00000263334.6:p.Phe329Leu
ENST00000263335.11:c.777+6057T>A	ENSP00000263335.7:n.777+6057T>A
ENST00000348715.9:c.908T>A	ENSP00000314750.5:p.Phe303Tyr
ENST00000397647.7:c.777+6057T>A	ENSP00000380768.3:n.777+6057T>A
ENST00000429538.7:c.987T>A	ENSP00000395498.3:p.Phe329Leu
ENST00000468980.3:c.254+1107T>A
ENST00000485840.1:n.997T>A
ENST00000497038.6:c.-109T>A	ENSP00000451618.3:n.-109T>A
ENST00000554352.1:n.418T>A
NM_003466.3:c.987T>A	NP_003457.1:p.Phe329Leu
NM_013952.3:c.908T>A	NP_039246.1:p.Phe303Tyr
NM_013953.3:c.777+6057T>A	NP_039247.1:n.777+6057T>A
NM_013992.3:c.777+6057T>A	NP_054698.1:n.777+6057T>A
XM_011511790.1:c.1158T>A	XP_011510092.1:p.Phe386Leu
XM_011511791.1:c.1158T>A	XP_011510093.1:p.Phe386Leu
XM_011511792.1:c.1079T>A	XP_011510094.1:p.Phe360Tyr
XM_011511793.1:c.1069+1107T>A	XP_011510095.1:n.1069+1107T>A
XM_011511794.1:c.898+1107T>A	XP_011510096.1:n.898+1107T>A
XR_923021.1:n.1106T>A
NM_003466.4:c.987T>A MANE Select	NP_003457.1:p.Phe329Leu
NM_013952.4:c.908T>A	NP_039246.1:p.Phe303Tyr
NM_013953.4:c.777+6057T>A	NP_039247.1:n.777+6057T>A
NM_013992.4:c.777+6057T>A	NP_054698.1:n.777+6057T>A