Canonical Allele Identifier: CA214077
Gene: PDX1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.27924622A>G
GRCh37 chr13:g.28498759A>G
Revel Score:
ENST00000381033 (MANE Select) 0.238
gnomAD v2:
13:28498759 A / G
gnomAD v3:
13:27924622 A / G
gnomAD v4:
chr13-27924622-A-G
Joint Max Group AF 0.00001946 (AMR)
Exomes Max Group AF 0.00001293 (AMR)
ClinVar RCV:
RCV000030085
ClinVar Variation:
36413
dbSNP:
193922360
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924622A>G , CM000675.2:g.27924622A>G GRCh38
NC_000013.10:g.28498759A>G , CM000675.1:g.28498759A>G GRCh37
NC_000013.9:g.27396759A>G NCBI36
NG_008183.1:g.9592A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.773A>G MANE Select ENSP00000370421.4:p.Glu258Gly
ENST00000381033.4:c.773A>G ENSP00000370421.4:p.Glu258Gly
NM_000209.3:c.773A>G NP_000200.1:p.Glu258Gly
NM_000209.4:c.773A>G MANE Select NP_000200.1:p.Glu258Gly
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