Canonical Allele Identifier: CA387646400

Gene: PDX1

Linked Data

• dbSNP Id: rs1298791020
• gnomAD v2: 13-28498671-G-C
• gnomAD v4: 13-27924534-G-C
• MyVariant Identifiers: chr13:g.28498671G>C (hg19) ; chr13:g.27924534G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924534G>C , CM000675.2:g.27924534G>C	GRCh38
NC_000013.10:g.28498671G>C , CM000675.1:g.28498671G>C	GRCh37
NC_000013.9:g.27396671G>C	NCBI36
NG_008183.1:g.9504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.685G>C MANE Select	ENSP00000370421.4:p.Val229Leu
ENST00000381033.4:c.685G>C	ENSP00000370421.4:p.Val229Leu
NM_000209.3:c.685G>C	NP_000200.1:p.Val229Leu
NM_000209.4:c.685G>C MANE Select	NP_000200.1:p.Val229Leu