Canonical Allele Identifier: CA2129379137
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36385079C= , CM000676.2:g.36385079C= GRCh38
NC_000014.8:g.36854284C= , CM000676.1:g.36854284C= GRCh37
NC_000014.7:g.35924035C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011537428.1:c.319-12080C= XP_011535730.1:n.319-12080C=
XR_943756.1:n.358+23983C=