Canonical Allele Identifier: CA6927659
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs781025559
ExAC: 13:28498395 G / T
gnomAD v2: 13-28498395-G-T
gnomAD v4: 13-27924258-G-T
MyVariant Identifiers: chr13:g.28498395G>T (hg19) chr13:g.27924258G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924258G>T , CM000675.2:g.27924258G>T GRCh38
NC_000013.10:g.28498395G>T , CM000675.1:g.28498395G>T GRCh37
NC_000013.9:g.27396395G>T NCBI36
NG_008183.1:g.9228G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.409G>T MANE Select ENSP00000370421.4:p.Gly137Cys
ENST00000381033.4:c.409G>T ENSP00000370421.4:p.Gly137Cys
NM_000209.3:c.409G>T NP_000200.1:p.Gly137Cys
XR_941578.1:n.3536G>T
XR_941579.1:n.2135G>T
XR_941580.1:n.1051G>T
XR_941578.2:n.3548G>T
XR_941580.2:n.1063G>T
NM_000209.4:c.409G>T MANE Select NP_000200.1:p.Gly137Cys
Search 100 bp 5'
Search 100 bp 3'