Canonical Allele Identifier: CA11800060
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52430144G>A , CM000666.2:g.52430144G>A GRCh38
NC_000004.11:g.53296310G>A , CM000666.1:g.53296310G>A GRCh37
NC_000004.10:g.52991067G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959793.1:n.638-5863C>T