Canonical Allele Identifier: CA483175562
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1377872941
gnomAD v2: 13-28498430-G-A
gnomAD v3: 13-27924293-G-A
gnomAD v4: 13-27924293-G-A
MyVariant Identifiers: chr13:g.28498430G>A (hg19) chr13:g.27924293G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924293G>A , CM000675.2:g.27924293G>A GRCh38
NC_000013.10:g.28498430G>A , CM000675.1:g.28498430G>A GRCh37
NC_000013.9:g.27396430G>A NCBI36
NG_008183.1:g.9263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.444G>A MANE Select ENSP00000370421.4:p.Arg148=
ENST00000381033.4:c.444G>A ENSP00000370421.4:p.Arg148=
NM_000209.3:c.444G>A NP_000200.1:p.Arg148=
XR_941578.1:n.3571G>A
XR_941579.1:n.2170G>A
XR_941580.1:n.1086G>A
XR_941578.2:n.3583G>A
XR_941580.2:n.1098G>A
NM_000209.4:c.444G>A MANE Select NP_000200.1:p.Arg148=
Search 100 bp 5'
Search 100 bp 3'