Canonical Allele Identifier: CA387646516
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs753881947
gnomAD v4: 13-27924568-C-T
MyVariant Identifiers: chr13:g.28498705C>T (hg19) chr13:g.27924568C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924568C>T , CM000675.2:g.27924568C>T GRCh38
NC_000013.10:g.28498705C>T , CM000675.1:g.28498705C>T GRCh37
NC_000013.9:g.27396705C>T NCBI36
NG_008183.1:g.9538C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.719C>T MANE Select ENSP00000370421.4:p.Pro240Leu
ENST00000381033.4:c.719C>T ENSP00000370421.4:p.Pro240Leu
NM_000209.3:c.719C>T NP_000200.1:p.Pro240Leu
NM_000209.4:c.719C>T MANE Select NP_000200.1:p.Pro240Leu
Search 100 bp 5'
Search 100 bp 3'