Canonical Allele Identifier: CA1282456460
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079695C= , CM000664.2:g.118079695C= GRCh38
NC_000002.11:g.118837271C= , CM000664.1:g.118837271C= GRCh37
NC_000002.10:g.118553741C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2163G= XP_011510607.1:n.697-2163G=
XR_001739662.2:n.138+8556G=