Canonical Allele Identifier: CA2793744760
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072641G>T , CM000673.2:g.116072641G>T GRCh38
NC_000011.9:g.115943359G>T , CM000673.1:g.115943359G>T GRCh37
NC_000011.8:g.115448569G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+373C>A
XR_948056.1:n.311-5436C>A
XR_948057.1:n.97+468C>A
XR_001748401.1:n.192+373C>A
XR_948055.2:n.192+373C>A
XR_948056.2:n.314-5436C>A
XR_948057.2:n.97+468C>A
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