Canonical Allele Identifier: CA229981023
Gene:

Linked Data

dbSNP Id: rs984024623

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072486G>A , CM000673.2:g.116072486G>A GRCh38
NC_000011.9:g.115943204G>A , CM000673.1:g.115943204G>A GRCh37
NC_000011.8:g.115448414G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+528C>T
XR_948056.1:n.311-5281C>T
XR_948057.1:n.97+623C>T
XR_001748401.1:n.192+528C>T
XR_948055.2:n.192+528C>T
XR_948056.2:n.314-5281C>T
XR_948057.2:n.97+623C>T