Canonical Allele Identifier: CA2587946260
Gene:

Linked Data

gnomAD v4: 19-7522608-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522608G>A , CM000681.2:g.7522608G>A GRCh38
NC_000019.9:g.7587494G>A , CM000681.1:g.7587494G>A GRCh37
NC_000019.8:g.7493494G>A NCBI36
NG_015806.1:g.4999G>A

Transcript Alleles

HGVS Amino-acid Change
XR_936293.1:n.926+234C>T
XR_936294.1:n.926+234C>T
XR_936295.1:n.570+234C>T
XR_936293.2:n.952+234C>T
XR_936294.2:n.952+234C>T