Canonical Allele Identifier: CA6927704

Gene: PDX1

Linked Data

• dbSNP Id: rs771764758
• ExAC: 13:28498655 T / C
• gnomAD v2: 13-28498655-T-C
• gnomAD v3: 13-27924518-T-C
• gnomAD v4: 13-27924518-T-C
• MyVariant Identifiers: chr13:g.28498655T>C (hg19) ; chr13:g.27924518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924518T>C , CM000675.2:g.27924518T>C	GRCh38
NC_000013.10:g.28498655T>C , CM000675.1:g.28498655T>C	GRCh37
NC_000013.9:g.27396655T>C	NCBI36
NG_008183.1:g.9488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.669T>C MANE Select	ENSP00000370421.4:p.Pro223=
ENST00000381033.4:c.669T>C	ENSP00000370421.4:p.Pro223=
NM_000209.3:c.669T>C	NP_000200.1:p.Pro223=
NM_000209.4:c.669T>C MANE Select	NP_000200.1:p.Pro223=