Canonical Allele Identifier: CA483175517
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1295461250
gnomAD v2: 13-28498384-C-T
gnomAD v3: 13-27924247-C-T
gnomAD v4: 13-27924247-C-T
MyVariant Identifiers: chr13:g.28498384C>T (hg19) chr13:g.27924247C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924247C>T , CM000675.2:g.27924247C>T GRCh38
NC_000013.10:g.28498384C>T , CM000675.1:g.28498384C>T GRCh37
NC_000013.9:g.27396384C>T NCBI36
NG_008183.1:g.9217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.407-9C>T MANE Select ENSP00000370421.4:n.407-9C>T
ENST00000381033.4:c.407-9C>T ENSP00000370421.4:n.407-9C>T
NM_000209.3:c.407-9C>T NP_000200.1:n.407-9C>T
XR_941578.1:n.3534-9C>T
XR_941579.1:n.2133-9C>T
XR_941580.1:n.1049-9C>T
XR_941578.2:n.3546-9C>T
XR_941580.2:n.1061-9C>T
NM_000209.4:c.407-9C>T MANE Select NP_000200.1:n.407-9C>T
Search 100 bp 5'
Search 100 bp 3'