Canonical Allele Identifier: CA387646981
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs754817283
gnomAD v2: 13-28498834-G-T
gnomAD v4: 13-27924697-G-T
MyVariant Identifiers: chr13:g.28498834G>T (hg19) chr13:g.27924697G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924697G>T , CM000675.2:g.27924697G>T GRCh38
NC_000013.10:g.28498834G>T , CM000675.1:g.28498834G>T GRCh37
NC_000013.9:g.27396834G>T NCBI36
NG_008183.1:g.9667G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.848G>T MANE Select ENSP00000370421.4:p.Arg283Leu
ENST00000381033.4:c.848G>T ENSP00000370421.4:p.Arg283Leu
NM_000209.3:c.848G>T NP_000200.1:p.Arg283Leu
NM_000209.4:c.848G>T MANE Select NP_000200.1:p.Arg283Leu
Search 100 bp 5'
Search 100 bp 3'