Canonical Allele Identifier: CA12739312
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126912414C>A , CM000670.2:g.126912414C>A GRCh38
NC_000008.10:g.127924659C>A , CM000670.1:g.127924659C>A GRCh37
NC_000008.9:g.127993841C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1300+34624C>A