Canonical Allele Identifier: CA11025376

Gene: PAX8

Linked Data

• dbSNP Id: rs11123170
• gnomAD v2: 2-113978940-C-G
• gnomAD v3: 2-113221363-C-G
• gnomAD v4: 2-113221363-C-G
• MyVariant Identifiers: chr2:g.113978940C>G (hg19) ; chr2:g.113221363C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113221363C>G , CM000664.2:g.113221363C>G	GRCh38
NC_000002.11:g.113978940C>G , CM000664.1:g.113978940C>G	GRCh37
NC_000002.10:g.113695411C>G	NCBI36
NG_012384.1:g.62559G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000468980.4:c.1001-1185G>C	ENSP00000451240.2:n.1001-1185G>C
ENST00000429538.8:c.1190-1185G>C MANE Select	ENSP00000395498.3:n.1190-1185G>C
ENST00000681162.1:c.1190-1185G>C	ENSP00000505425.1:n.1190-1185G>C
ENST00000263334.9:c.1190-1185G>C	ENSP00000263334.6:n.1190-1185G>C
ENST00000263335.11:c.880-1185G>C	ENSP00000263335.7:n.880-1185G>C
ENST00000348715.9:c.1111-1185G>C	ENSP00000314750.5:n.1111-1185G>C
ENST00000397647.7:c.778-1185G>C	ENSP00000380768.3:n.778-1185G>C
ENST00000429538.7:c.1190-1185G>C	ENSP00000395498.3:n.1190-1185G>C
ENST00000465084.1:c.209-1185G>C
ENST00000468980.3:c.357-1185G>C
ENST00000497038.6:c.95-1185G>C	ENSP00000451618.3:n.95-1185G>C
NM_003466.3:c.1190-1185G>C	NP_003457.1:n.1190-1185G>C
NM_013952.3:c.1111-1185G>C	NP_039246.1:n.1111-1185G>C
NM_013953.3:c.880-1185G>C	NP_039247.1:n.880-1185G>C
NM_013992.3:c.778-1185G>C	NP_054698.1:n.778-1185G>C
XM_011511790.1:c.1361-1185G>C	XP_011510092.1:n.1361-1185G>C
XM_011511791.1:c.1417-1185G>C	XP_011510093.1:n.1417-1185G>C
XM_011511792.1:c.1282-1185G>C	XP_011510094.1:n.1282-1185G>C
XM_011511793.1:c.1172-1185G>C	XP_011510095.1:n.1172-1185G>C
XM_011511794.1:c.1001-1185G>C	XP_011510096.1:n.1001-1185G>C
XR_923021.1:n.1365-1185G>C
NM_003466.4:c.1190-1185G>C MANE Select	NP_003457.1:n.1190-1185G>C
NM_013952.4:c.1111-1185G>C	NP_039246.1:n.1111-1185G>C
NM_013953.4:c.880-1185G>C	NP_039247.1:n.880-1185G>C
NM_013992.4:c.778-1185G>C	NP_054698.1:n.778-1185G>C