Canonical Allele Identifier: CA229980907
Gene:

Linked Data

dbSNP Id: rs529445342

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072388G>A , CM000673.2:g.116072388G>A GRCh38
NC_000011.9:g.115943106G>A , CM000673.1:g.115943106G>A GRCh37
NC_000011.8:g.115448316G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+626C>T
XR_948056.1:n.311-5183C>T
XR_948057.1:n.97+721C>T
XR_001748401.1:n.192+626C>T
XR_948055.2:n.192+626C>T
XR_948056.2:n.314-5183C>T
XR_948057.2:n.97+721C>T