Canonical Allele Identifier: CA6927666

Gene: PDX1

Linked Data

• ClinVar Variation Id: 725137
• ClinVar RCV Id: RCV000899157 ; RCV004551707
• dbSNP Id: rs148001995
• ExAC: 13:28498415 G / C
• gnomAD v2: 13-28498415-G-C
• gnomAD v3: 13-27924278-G-C
• gnomAD v4: 13-27924278-G-C
• MyVariant Identifiers: chr13:g.28498415G>C (hg19) ; chr13:g.27924278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924278G>C , CM000675.2:g.27924278G>C	GRCh38
NC_000013.10:g.28498415G>C , CM000675.1:g.28498415G>C	GRCh37
NC_000013.9:g.27396415G>C	NCBI36
NG_008183.1:g.9248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.429G>C MANE Select	ENSP00000370421.4:p.Pro143=
ENST00000381033.4:c.429G>C	ENSP00000370421.4:p.Pro143=
NM_000209.3:c.429G>C	NP_000200.1:p.Pro143=
XR_941578.1:n.3556G>C
XR_941579.1:n.2155G>C
XR_941580.1:n.1071G>C
XR_941578.2:n.3568G>C
XR_941580.2:n.1083G>C
NM_000209.4:c.429G>C MANE Select	NP_000200.1:p.Pro143=