Canonical Allele Identifier: CA483175950
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1442259663
gnomAD v2: 13-28498604-C-T
gnomAD v3: 13-27924467-C-T
gnomAD v4: 13-27924467-C-T
MyVariant Identifiers: chr13:g.28498604C>T (hg19) chr13:g.27924467C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924467C>T , CM000675.2:g.27924467C>T GRCh38
NC_000013.10:g.28498604C>T , CM000675.1:g.28498604C>T GRCh37
NC_000013.9:g.27396604C>T NCBI36
NG_008183.1:g.9437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.618C>T MANE Select ENSP00000370421.4:p.Asp206=
ENST00000381033.4:c.618C>T ENSP00000370421.4:p.Asp206=
NM_000209.3:c.618C>T NP_000200.1:p.Asp206=
NM_000209.4:c.618C>T MANE Select NP_000200.1:p.Asp206=
Search 100 bp 5'
Search 100 bp 3'