Canonical Allele Identifier: CA2838025734
Community Standard Title: NC_000010.11:g.30201775C>A
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30201775C>A , CM000672.2:g.30201775C>A GRCh38
NC_000010.10:g.30490704C>A , CM000672.1:g.30490704C>A GRCh37
NC_000010.9:g.30530710C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930791.1:n.1193-1712C>A
XR_930791.2:n.1449-1712C>A