Canonical Allele Identifier: CA1139433267
Gene:

Linked Data

gnomAD v3: Y-15286782-T-A
gnomAD v4: Y-15286782-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15286782T>A , CM000686.2:g.15286782T>A GRCh38
NC_000024.9:g.17398662T>A , CM000686.1:g.17398662T>A GRCh37
NC_000024.8:g.15908056T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001756089.1:n.310-39604A>T