Canonical Allele Identifier: CA6927693

Gene: PDX1

Linked Data

• dbSNP Id: rs763082291
• ExAC: 13:28498628 T / A
• gnomAD v2: 13-28498628-T-A
• gnomAD v4: 13-27924491-T-A
• MyVariant Identifiers: chr13:g.28498628T>A (hg19) ; chr13:g.27924491T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924491T>A , CM000675.2:g.27924491T>A	GRCh38
NC_000013.10:g.28498628T>A , CM000675.1:g.28498628T>A	GRCh37
NC_000013.9:g.27396628T>A	NCBI36
NG_008183.1:g.9461T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.642T>A MANE Select	ENSP00000370421.4:p.Ala214=
ENST00000381033.4:c.642T>A	ENSP00000370421.4:p.Ala214=
NM_000209.3:c.642T>A	NP_000200.1:p.Ala214=
NM_000209.4:c.642T>A MANE Select	NP_000200.1:p.Ala214=