Canonical Allele Identifier: CA1139433266
Gene:

Linked Data

gnomAD v3: Y-15286746-A-G
gnomAD v4: Y-15286746-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15286746A>G , CM000686.2:g.15286746A>G GRCh38
NC_000024.9:g.17398626A>G , CM000686.1:g.17398626A>G GRCh37
NC_000024.8:g.15908020A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001756089.1:n.310-39568T>C