Canonical Allele Identifier: CA6927657

Gene: PDX1

Linked Data

• dbSNP Id: rs748191433
• ExAC: 13:28498375 G / A
• gnomAD v2: 13-28498375-G-A
• gnomAD v3: 13-27924238-G-A
• gnomAD v4: 13-27924238-G-A
• MyVariant Identifiers: chr13:g.28498375G>A (hg19) ; chr13:g.27924238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924238G>A , CM000675.2:g.27924238G>A	GRCh38
NC_000013.10:g.28498375G>A , CM000675.1:g.28498375G>A	GRCh37
NC_000013.9:g.27396375G>A	NCBI36
NG_008183.1:g.9208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.407-18G>A MANE Select	ENSP00000370421.4:n.407-18G>A
ENST00000381033.4:c.407-18G>A	ENSP00000370421.4:n.407-18G>A
NM_000209.3:c.407-18G>A	NP_000200.1:n.407-18G>A
XR_941578.1:n.3534-18G>A
XR_941579.1:n.2133-18G>A
XR_941580.1:n.1049-18G>A
XR_941578.2:n.3546-18G>A
XR_941580.2:n.1061-18G>A
NM_000209.4:c.407-18G>A MANE Select	NP_000200.1:n.407-18G>A