Canonical Allele Identifier: CA1565294429
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96151236A>C , CM000667.2:g.96151236A>C GRCh38
NC_000005.9:g.95486940A>C , CM000667.1:g.95486940A>C GRCh37
NC_000005.8:g.95512696A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_130776.1:n.37-157488A>C
XR_948597.1:n.110-523A>C
XR_001742451.1:n.3291+40231A>C