Canonical Allele Identifier: CA1591798690
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.152354491C= , CM000667.2:g.152354491C= GRCh38
NC_000005.9:g.151734052C= , CM000667.1:g.151734052C= GRCh37
NC_000005.8:g.151714245C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944433.1:n.196+16628C=
XR_944433.2:n.197+16628C=