Canonical Allele Identifier: CA12725042
Community Standard Title: NC_000008.11:g.53206654G>A
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.53206654G>A , CM000670.2:g.53206654G>A GRCh38
NC_000008.10:g.54119214G>A , CM000670.1:g.54119214G>A GRCh37
NC_000008.9:g.54281767G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928877.1:n.434-9645G>A