Canonical Allele Identifier: CA483175537
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1420738660
gnomAD v2: 13-28498403-C-T
gnomAD v4: 13-27924266-C-T
MyVariant Identifiers: chr13:g.28498403C>T (hg19) chr13:g.27924266C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924266C>T , CM000675.2:g.27924266C>T GRCh38
NC_000013.10:g.28498403C>T , CM000675.1:g.28498403C>T GRCh37
NC_000013.9:g.27396403C>T NCBI36
NG_008183.1:g.9236C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.417C>T MANE Select ENSP00000370421.4:p.Tyr139=
ENST00000381033.4:c.417C>T ENSP00000370421.4:p.Tyr139=
NM_000209.3:c.417C>T NP_000200.1:p.Tyr139=
XR_941578.1:n.3544C>T
XR_941579.1:n.2143C>T
XR_941580.1:n.1059C>T
XR_941578.2:n.3556C>T
XR_941580.2:n.1071C>T
NM_000209.4:c.417C>T MANE Select NP_000200.1:p.Tyr139=
Search 100 bp 5'
Search 100 bp 3'