Canonical Allele Identifier: CA2587946251
Gene:

Linked Data

gnomAD v4: 19-7522604-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522604C>A , CM000681.2:g.7522604C>A GRCh38
NC_000019.9:g.7587490C>A , CM000681.1:g.7587490C>A GRCh37
NC_000019.8:g.7493490C>A NCBI36
NG_015806.1:g.4995C>A

Transcript Alleles

HGVS Amino-acid Change
XR_936293.1:n.926+238G>T
XR_936294.1:n.926+238G>T
XR_936295.1:n.570+238G>T
XR_936293.2:n.952+238G>T
XR_936294.2:n.952+238G>T