Canonical Allele Identifier: CA247265359
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs948183052
gnomAD v2: 13-28498541-G-A
gnomAD v3: 13-27924404-G-A
gnomAD v4: 13-27924404-G-A
MyVariant Identifiers: chr13:g.28498541G>A (hg19) chr13:g.27924404G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924404G>A , CM000675.2:g.27924404G>A GRCh38
NC_000013.10:g.28498541G>A , CM000675.1:g.28498541G>A GRCh37
NC_000013.9:g.27396541G>A NCBI36
NG_008183.1:g.9374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.555G>A MANE Select ENSP00000370421.4:p.Leu185=
ENST00000381033.4:c.555G>A ENSP00000370421.4:p.Leu185=
NM_000209.3:c.555G>A NP_000200.1:p.Leu185=
NM_000209.4:c.555G>A MANE Select NP_000200.1:p.Leu185=
Search 100 bp 5'
Search 100 bp 3'