Canonical Allele Identifier: CA123456

Gene: PAX8

Linked Data

• ClinVar Variation Id: 13782
• ClinVar RCV Id: RCV000014792 ; RCV001133552 ; RCV001698942 ; RCV003974824 ; RCV003430637
• dbSNP Id: rs3188996
• ExAC: 2:113993073 A / G
• gnomAD v2: 2-113993073-A-G
• gnomAD v3: 2-113235496-A-G
• gnomAD v4: 2-113235496-A-G
• MyVariant Identifiers: chr2:g.113993073A>G (hg19) ; chr2:g.113235496A>G (hg38)
• PubMed: PMID:9382140

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113235496A>G , CM000664.2:g.113235496A>G	GRCh38
NC_000002.11:g.113993073A>G , CM000664.1:g.113993073A>G	GRCh37
NC_000002.10:g.113709544A>G	NCBI36
NG_012384.1:g.48426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468980.4:c.898+1105T>C	ENSP00000451240.2:n.898+1105T>C
ENST00000429538.8:c.985T>C MANE Select	ENSP00000395498.3:p.Phe329Leu
ENST00000681162.1:c.985T>C	ENSP00000505425.1:p.Phe329Leu
ENST00000263334.9:c.985T>C	ENSP00000263334.6:p.Phe329Leu
ENST00000263335.11:c.777+6055T>C	ENSP00000263335.7:n.777+6055T>C
ENST00000348715.9:c.906T>C	ENSP00000314750.5:p.Pro302=
ENST00000397647.7:c.777+6055T>C	ENSP00000380768.3:n.777+6055T>C
ENST00000429538.7:c.985T>C	ENSP00000395498.3:p.Phe329Leu
ENST00000468980.3:c.254+1105T>C
ENST00000485840.1:n.995T>C
ENST00000497038.6:c.-111T>C	ENSP00000451618.3:n.-111T>C
ENST00000554352.1:n.416T>C
NM_003466.3:c.985T>C	NP_003457.1:p.Phe329Leu
NM_013952.3:c.906T>C	NP_039246.1:p.Pro302=
NM_013953.3:c.777+6055T>C	NP_039247.1:n.777+6055T>C
NM_013992.3:c.777+6055T>C	NP_054698.1:n.777+6055T>C
XM_011511790.1:c.1156T>C	XP_011510092.1:p.Phe386Leu
XM_011511791.1:c.1156T>C	XP_011510093.1:p.Phe386Leu
XM_011511792.1:c.1077T>C	XP_011510094.1:p.Pro359=
XM_011511793.1:c.1069+1105T>C	XP_011510095.1:n.1069+1105T>C
XM_011511794.1:c.898+1105T>C	XP_011510096.1:n.898+1105T>C
XR_923021.1:n.1104T>C
NM_003466.4:c.985T>C MANE Select	NP_003457.1:p.Phe329Leu
NM_013952.4:c.906T>C	NP_039246.1:p.Pro302=
NM_013953.4:c.777+6055T>C	NP_039247.1:n.777+6055T>C
NM_013992.4:c.777+6055T>C	NP_054698.1:n.777+6055T>C