Canonical Allele Identifier: CA565407120
Gene:

Linked Data

dbSNP Id: rs1204484495
gnomAD v2: 6-8228863-G-A
gnomAD v3: 6-8228630-G-A
gnomAD v4: 6-8228630-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8228630G>A , CM000668.2:g.8228630G>A GRCh38
NC_000006.11:g.8228863G>A , CM000668.1:g.8228863G>A GRCh37
NC_000006.10:g.8173862G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.83-1484G>A
XR_926441.1:n.190-10301G>A
XR_926442.1:n.83-1484G>A
XR_926443.1:n.83-10301G>A
XR_001743950.1:n.180-10301G>A
XR_926440.2:n.75-1484G>A
XR_926441.2:n.180-10301G>A
XR_926443.2:n.84-10301G>A