Canonical Allele Identifier: CA2686840874
Gene:

Linked Data

gnomAD v4: 8-31176542-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176542C>A , CM000670.2:g.31176542C>A GRCh38
NC_000008.10:g.31034058C>A , CM000670.1:g.31034058C>A GRCh37
NC_000008.9:g.31153600C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.223C>A
XR_949643.1:n.87+150G>T
XR_949644.1:n.87+150G>T
XR_949645.1:n.87+150G>T
XR_949646.1:n.87+150G>T
XR_949647.1:n.700+150G>T
XR_949648.1:n.602+150G>T