Canonical Allele Identifier: CA2254736347
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376253A= , CM000679.2:g.29376253A= GRCh38
NC_000017.10:g.27703271A= , CM000679.1:g.27703271A= GRCh37
NC_000017.9:g.24727397A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011525588.1:c.1008-5948T= XP_011523890.1:n.1008-5948T=