Canonical Allele Identifier: CA483175533
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1957807971
gnomAD v3: 13-27924263-C-T
gnomAD v4: 13-27924263-C-T
MyVariant Identifiers: chr13:g.28498400C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924263C>T , CM000675.2:g.27924263C>T GRCh38
NC_000013.10:g.28498400C>T , CM000675.1:g.28498400C>T GRCh37
NC_000013.9:g.27396400C>T NCBI36
NG_008183.1:g.9233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.414C>T MANE Select ENSP00000370421.4:p.Ala138=
ENST00000381033.4:c.414C>T ENSP00000370421.4:p.Ala138=
NM_000209.3:c.414C>T NP_000200.1:p.Ala138=
XR_941578.1:n.3541C>T
XR_941579.1:n.2140C>T
XR_941580.1:n.1056C>T
XR_941578.2:n.3553C>T
XR_941580.2:n.1068C>T
NM_000209.4:c.414C>T MANE Select NP_000200.1:p.Ala138=
Search 100 bp 5'
Search 100 bp 3'