Canonical Allele Identifier: CA387645287

Gene: PDX1

Linked Data

• gnomAD v4: 13-27924274-A-T
• MyVariant Identifiers: chr13:g.28498411A>T (hg19) ; chr13:g.27924274A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924274A>T , CM000675.2:g.27924274A>T	GRCh38
NC_000013.10:g.28498411A>T , CM000675.1:g.28498411A>T	GRCh37
NC_000013.9:g.27396411A>T	NCBI36
NG_008183.1:g.9244A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.425A>T MANE Select	ENSP00000370421.4:p.Glu142Val
ENST00000381033.4:c.425A>T	ENSP00000370421.4:p.Glu142Val
NM_000209.3:c.425A>T	NP_000200.1:p.Glu142Val
XR_941578.1:n.3552A>T
XR_941579.1:n.2151A>T
XR_941580.1:n.1067A>T
XR_941578.2:n.3564A>T
XR_941580.2:n.1079A>T
NM_000209.4:c.425A>T MANE Select	NP_000200.1:p.Glu142Val