Canonical Allele Identifier: CA387646113

Gene: PDX1

Linked Data

• dbSNP Id: rs1442259663
• gnomAD v3: 13-27924467-C-G
• gnomAD v4: 13-27924467-C-G
• MyVariant Identifiers: chr13:g.28498604C>G (hg19) ; chr13:g.27924467C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.618C>G MANE Select	ENSP00000370421.4:p.Asp206Glu
ENST00000381033.4:c.618C>G	ENSP00000370421.4:p.Asp206Glu
NM_000209.3:c.618C>G	NP_000200.1:p.Asp206Glu
NM_000209.4:c.618C>G MANE Select	NP_000200.1:p.Asp206Glu