Canonical Allele Identifier: CA1912720889
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.57812838A= , CM000672.2:g.57812838A= GRCh38
NC_000010.10:g.59572598A= , CM000672.1:g.59572598A= GRCh37
NC_000010.9:g.59242604A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945979.1:n.68+34454T=
XR_001747454.1:n.85+34454T=