Canonical Allele Identifier: CA247265353

Gene: PDX1

Linked Data

• dbSNP Id: rs202159230
• gnomAD v3: 13-27924403-T-G
• gnomAD v4: 13-27924403-T-G
• MyVariant Identifiers: chr13:g.28498540T>G (hg19) ; chr13:g.27924403T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924403T>G , CM000675.2:g.27924403T>G	GRCh38
NC_000013.10:g.28498540T>G , CM000675.1:g.28498540T>G	GRCh37
NC_000013.9:g.27396540T>G	NCBI36
NG_008183.1:g.9373T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.554T>G MANE Select	ENSP00000370421.4:p.Leu185Trp
ENST00000381033.4:c.554T>G	ENSP00000370421.4:p.Leu185Trp
NM_000209.3:c.554T>G	NP_000200.1:p.Leu185Trp
NM_000209.4:c.554T>G MANE Select	NP_000200.1:p.Leu185Trp