Canonical Allele Identifier: CA6927660
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs745645852
ExAC: 13:28498399 C / T
gnomAD v2: 13-28498399-C-T
gnomAD v4: 13-27924262-C-T
MyVariant Identifiers: chr13:g.28498399C>T (hg19) chr13:g.27924262C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924262C>T , CM000675.2:g.27924262C>T GRCh38
NC_000013.10:g.28498399C>T , CM000675.1:g.28498399C>T GRCh37
NC_000013.9:g.27396399C>T NCBI36
NG_008183.1:g.9232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.413C>T MANE Select ENSP00000370421.4:p.Ala138Val
ENST00000381033.4:c.413C>T ENSP00000370421.4:p.Ala138Val
NM_000209.3:c.413C>T NP_000200.1:p.Ala138Val
XR_941578.1:n.3540C>T
XR_941579.1:n.2139C>T
XR_941580.1:n.1055C>T
XR_941578.2:n.3552C>T
XR_941580.2:n.1067C>T
NM_000209.4:c.413C>T MANE Select NP_000200.1:p.Ala138Val
Search 100 bp 5'
Search 100 bp 3'