Canonical Allele Identifier: CA279637051
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27045134G>A , CM000678.2:g.27045134G>A GRCh38
NC_000016.9:g.27056455G>A , CM000678.1:g.27056455G>A GRCh37
NC_000016.8:g.26963956G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_950951.1:n.859+400C>T
XR_950952.1:n.1634+400C>T
XR_950953.1:n.1549-620C>T
XR_001752325.1:n.2108+400C>T
XR_001752326.1:n.1634+400C>T
XR_001752327.1:n.2023-620C>T