Canonical Allele Identifier: CA387646199

Gene: PDX1

Linked Data

• MyVariant Identifiers: chr13:g.28498626G>A (hg19) ; chr13:g.27924489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924489G>A , CM000675.2:g.27924489G>A	GRCh38
NC_000013.10:g.28498626G>A , CM000675.1:g.28498626G>A	GRCh37
NC_000013.9:g.27396626G>A	NCBI36
NG_008183.1:g.9459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.640G>A MANE Select	ENSP00000370421.4:p.Ala214Thr
ENST00000381033.4:c.640G>A	ENSP00000370421.4:p.Ala214Thr
NM_000209.3:c.640G>A	NP_000200.1:p.Ala214Thr
NM_000209.4:c.640G>A MANE Select	NP_000200.1:p.Ala214Thr