Canonical Allele Identifier: CA387646462

Gene: PDX1

Linked Data

• COSMIC: COSM3468043
• MyVariant Identifiers: chr13:g.28498687A>C (hg19) ; chr13:g.27924550A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924550A>C , CM000675.2:g.27924550A>C	GRCh38
NC_000013.10:g.28498687A>C , CM000675.1:g.28498687A>C	GRCh37
NC_000013.9:g.27396687A>C	NCBI36
NG_008183.1:g.9520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.701A>C MANE Select	ENSP00000370421.4:p.Glu234Ala
ENST00000381033.4:c.701A>C	ENSP00000370421.4:p.Glu234Ala
NM_000209.3:c.701A>C	NP_000200.1:p.Glu234Ala
NM_000209.4:c.701A>C MANE Select	NP_000200.1:p.Glu234Ala