Canonical Allele Identifier: CA6927700

Gene: PDX1

Linked Data

• dbSNP Id: rs753650635
• ExAC: 13:28498646 C / A
• gnomAD v2: 13-28498646-C-A
• gnomAD v3: 13-27924509-C-A
• gnomAD v4: 13-27924509-C-A
• MyVariant Identifiers: chr13:g.28498646C>A (hg19) ; chr13:g.27924509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924509C>A , CM000675.2:g.27924509C>A	GRCh38
NC_000013.10:g.28498646C>A , CM000675.1:g.28498646C>A	GRCh37
NC_000013.9:g.27396646C>A	NCBI36
NG_008183.1:g.9479C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.660C>A MANE Select	ENSP00000370421.4:p.Val220=
ENST00000381033.4:c.660C>A	ENSP00000370421.4:p.Val220=
NM_000209.3:c.660C>A	NP_000200.1:p.Val220=
NM_000209.4:c.660C>A MANE Select	NP_000200.1:p.Val220=