Canonical Allele Identifier: CA6927664
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164545
ClinVar RCV Id: RCV003088086 RCV004550397
dbSNP Id: rs771656169
ExAC: 13:28498414 C / G
gnomAD v2: 13-28498414-C-G
gnomAD v3: 13-27924277-C-G
gnomAD v4: 13-27924277-C-G
MyVariant Identifiers: chr13:g.28498414C>G (hg19) chr13:g.28498414_28498417delinsGGGA (hg19) chr13:g.27924277C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924277C>G , CM000675.2:g.27924277C>G GRCh38
NC_000013.10:g.28498414C>G , CM000675.1:g.28498414C>G GRCh37
NC_000013.9:g.27396414C>G NCBI36
NG_008183.1:g.9247C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.428C>G MANE Select ENSP00000370421.4:p.Pro143Arg
ENST00000381033.4:c.428C>G ENSP00000370421.4:p.Pro143Arg
NM_000209.3:c.428C>G NP_000200.1:p.Pro143Arg
XR_941578.1:n.3555C>G
XR_941579.1:n.2154C>G
XR_941580.1:n.1070C>G
XR_941578.2:n.3567C>G
XR_941580.2:n.1082C>G
NM_000209.4:c.428C>G MANE Select NP_000200.1:p.Pro143Arg
Search 100 bp 5'
Search 100 bp 3'