Canonical Allele Identifier: CA565403883
Gene:

Linked Data

gnomAD v2: 6-8169723-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169490G>A , CM000668.2:g.8169490G>A GRCh38
NC_000006.11:g.8169723G>A , CM000668.1:g.8169723G>A GRCh37
NC_000006.10:g.8114722G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11230G>A
XR_926441.1:n.189+1570G>A
XR_926442.1:n.82+11230G>A
XR_926443.1:n.82+11230G>A
XR_001743950.1:n.179+1570G>A
XR_926440.2:n.74+11230G>A
XR_926441.2:n.179+1570G>A
XR_926443.2:n.83+11230G>A