Canonical Allele Identifier: CA387645331
Gene: PDX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924292G>T , CM000675.2:g.27924292G>T GRCh38
NC_000013.10:g.28498429G>T , CM000675.1:g.28498429G>T GRCh37
NC_000013.9:g.27396429G>T NCBI36
NG_008183.1:g.9262G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.443G>T MANE Select ENSP00000370421.4:p.Arg148Leu
ENST00000381033.4:c.443G>T ENSP00000370421.4:p.Arg148Leu
NM_000209.3:c.443G>T NP_000200.1:p.Arg148Leu
XR_941578.1:n.3570G>T
XR_941579.1:n.2169G>T
XR_941580.1:n.1085G>T
XR_941578.2:n.3582G>T
XR_941580.2:n.1097G>T
NM_000209.4:c.443G>T MANE Select NP_000200.1:p.Arg148Leu