Canonical Allele Identifier: CA1122483520
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551282C>T , CM000671.2:g.25551282C>T GRCh38
NC_000009.11:g.25551280C>T , CM000671.1:g.25551280C>T GRCh37
NC_000009.10:g.25541280C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-710G>A
XR_929525.2:n.674-710G>A