Canonical Allele Identifier: CA1480021918
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474229T= , CM000666.2:g.99474229T= GRCh38
NC_000004.11:g.100395386T= , CM000666.1:g.100395386T= GRCh37
NC_000004.10:g.100614409T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2367A=