Canonical Allele Identifier: CA387645279
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs748882815
gnomAD v2: 13-28498407-G-A
gnomAD v4: 13-27924270-G-A
MyVariant Identifiers: chr13:g.28498407G>A (hg19) chr13:g.27924270G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924270G>A , CM000675.2:g.27924270G>A GRCh38
NC_000013.10:g.28498407G>A , CM000675.1:g.28498407G>A GRCh37
NC_000013.9:g.27396407G>A NCBI36
NG_008183.1:g.9240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.421G>A MANE Select ENSP00000370421.4:p.Ala141Thr
ENST00000381033.4:c.421G>A ENSP00000370421.4:p.Ala141Thr
NM_000209.3:c.421G>A NP_000200.1:p.Ala141Thr
XR_941578.1:n.3548G>A
XR_941579.1:n.2147G>A
XR_941580.1:n.1063G>A
XR_941578.2:n.3560G>A
XR_941580.2:n.1075G>A
NM_000209.4:c.421G>A MANE Select NP_000200.1:p.Ala141Thr
Search 100 bp 5'
Search 100 bp 3'