Canonical Allele Identifier: CA387646259

Gene: PDX1

Linked Data

• dbSNP Id: rs1399251309
• gnomAD v2: 13-28498639-G-T
• gnomAD v4: 13-27924502-G-T
• MyVariant Identifiers: chr13:g.28498639G>T (hg19) ; chr13:g.27924502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924502G>T , CM000675.2:g.27924502G>T	GRCh38
NC_000013.10:g.28498639G>T , CM000675.1:g.28498639G>T	GRCh37
NC_000013.9:g.27396639G>T	NCBI36
NG_008183.1:g.9472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.653G>T MANE Select	ENSP00000370421.4:p.Gly218Val
ENST00000381033.4:c.653G>T	ENSP00000370421.4:p.Gly218Val
NM_000209.3:c.653G>T	NP_000200.1:p.Gly218Val
NM_000209.4:c.653G>T MANE Select	NP_000200.1:p.Gly218Val