Canonical Allele Identifier: CA483027013
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1762663
ClinVar RCV Id: RCV002430185 RCV003738227
dbSNP Id: rs1181025974
gnomAD v2: 13-28498811-G-C
gnomAD v3: 13-27924674-G-C
gnomAD v4: 13-27924674-G-C
MyVariant Identifiers: chr13:g.28498811G>C (hg19) chr13:g.27924674G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924674G>C , CM000675.2:g.27924674G>C GRCh38
NC_000013.10:g.28498811G>C , CM000675.1:g.28498811G>C GRCh37
NC_000013.9:g.27396811G>C NCBI36
NG_008183.1:g.9644G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.825G>C MANE Select ENSP00000370421.4:p.Ala275=
ENST00000381033.4:c.825G>C ENSP00000370421.4:p.Ala275=
NM_000209.3:c.825G>C NP_000200.1:p.Ala275=
NM_000209.4:c.825G>C MANE Select NP_000200.1:p.Ala275=
Search 100 bp 5'
Search 100 bp 3'