Canonical Allele Identifier: CA387645328

Gene: PDX1

Linked Data

• MyVariant Identifiers: chr13:g.28498428C>T (hg19) ; chr13:g.27924291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924291C>T , CM000675.2:g.27924291C>T	GRCh38
NC_000013.10:g.28498428C>T , CM000675.1:g.28498428C>T	GRCh37
NC_000013.9:g.27396428C>T	NCBI36
NG_008183.1:g.9261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.442C>T MANE Select	ENSP00000370421.4:p.Arg148Trp
ENST00000381033.4:c.442C>T	ENSP00000370421.4:p.Arg148Trp
NM_000209.3:c.442C>T	NP_000200.1:p.Arg148Trp
XR_941578.1:n.3569C>T
XR_941579.1:n.2168C>T
XR_941580.1:n.1084C>T
XR_941578.2:n.3581C>T
XR_941580.2:n.1096C>T
NM_000209.4:c.442C>T MANE Select	NP_000200.1:p.Arg148Trp