Canonical Allele Identifier: CA672122675
Gene:

Linked Data

dbSNP Id: rs116686265

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072560T>A , CM000673.2:g.116072560T>A GRCh38
NC_000011.9:g.115943278T>A , CM000673.1:g.115943278T>A GRCh37
NC_000011.8:g.115448488T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+454A>T
XR_948056.1:n.311-5355A>T
XR_948057.1:n.97+549A>T
XR_001748401.1:n.192+454A>T
XR_948055.2:n.192+454A>T
XR_948056.2:n.314-5355A>T
XR_948057.2:n.97+549A>T