Canonical Allele Identifier: CA387646874

Gene: PDX1

Linked Data

• dbSNP Id: rs1482175613
• gnomAD v3: 13-27924672-G-C
• gnomAD v4: 13-27924672-G-C
• MyVariant Identifiers: chr13:g.28498809G>C (hg19) ; chr13:g.27924672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924672G>C , CM000675.2:g.27924672G>C	GRCh38
NC_000013.10:g.28498809G>C , CM000675.1:g.28498809G>C	GRCh37
NC_000013.9:g.27396809G>C	NCBI36
NG_008183.1:g.9642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.823G>C MANE Select	ENSP00000370421.4:p.Ala275Pro
ENST00000381033.4:c.823G>C	ENSP00000370421.4:p.Ala275Pro
NM_000209.3:c.823G>C	NP_000200.1:p.Ala275Pro
NM_000209.4:c.823G>C MANE Select	NP_000200.1:p.Ala275Pro