Canonical Allele Identifier: CA1840204

Gene: PAX8 PAX8-AS1

Linked Data

• ClinVar Variation Id: 330892
• ClinVar RCV Id: RCV000334334 ; RCV000872927
• dbSNP Id: rs61730086
• ExAC: 2:113999685 G / T
• gnomAD v2: 2-113999685-G-T
• gnomAD v3: 2-113242108-G-T
• gnomAD v4: 2-113242108-G-T
• MyVariant Identifiers: chr2:g.113999685G>T (hg19) ; chr2:g.113242108G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113242108G>T , CM000664.2:g.113242108G>T	GRCh38
NC_000002.11:g.113999685G>T , CM000664.1:g.113999685G>T	GRCh37
NC_000002.10:g.113716155G>T	NCBI36
NG_012384.1:g.41814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468980.4:c.501C>A (PAX8)	ENSP00000451240.2:p.Pro167=
ENST00000429538.8:c.501C>A (PAX8) MANE Select	ENSP00000395498.3:p.Pro167=
ENST00000681162.1:c.501C>A (PAX8)	ENSP00000505425.1:p.Pro167=
ENST00000263334.9:c.501C>A (PAX8)	ENSP00000263334.6:p.Pro167=
ENST00000263335.11:c.501C>A (PAX8)	ENSP00000263335.7:p.Pro167=
ENST00000348715.9:c.501C>A (PAX8)	ENSP00000314750.5:p.Pro167=
ENST00000397647.7:c.501C>A (PAX8)	ENSP00000380768.3:p.Pro167=
ENST00000429538.7:c.501C>A (PAX8)	ENSP00000395498.3:p.Pro167=
ENST00000467778.5:n.665C>A (PAX8)
ENST00000554830.2:c.72C>A (PAX8)	ENSP00000451213.2:p.Pro24=
NM_003466.3:c.501C>A (PAX8)	NP_003457.1:p.Pro167=
NM_013952.3:c.501C>A (PAX8)	NP_039246.1:p.Pro167=
NM_013953.3:c.501C>A (PAX8)	NP_039247.1:p.Pro167=
NM_013992.3:c.501C>A (PAX8)	NP_054698.1:p.Pro167=
NR_015377.2:n.354+5486G>T (PAX8-AS1)
XM_011511790.1:c.672C>A (PAX8)	XP_011510092.1:p.Pro224=
XM_011511791.1:c.672C>A (PAX8)	XP_011510093.1:p.Pro224=
XM_011511792.1:c.672C>A (PAX8)	XP_011510094.1:p.Pro224=
XM_011511793.1:c.672C>A (PAX8)	XP_011510095.1:p.Pro224=
XM_011511794.1:c.501C>A (PAX8)	XP_011510096.1:p.Pro167=
XR_923021.1:n.699C>A (PAX8)
NM_003466.4:c.501C>A (PAX8) MANE Select	NP_003457.1:p.Pro167=
NM_013952.4:c.501C>A (PAX8)	NP_039246.1:p.Pro167=
NM_013953.4:c.501C>A (PAX8)	NP_039247.1:p.Pro167=
NM_013992.4:c.501C>A (PAX8)	NP_054698.1:p.Pro167=