Canonical Allele Identifier: CA620934588
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9288472A>C , CM000678.2:g.9288472A>C GRCh38
NC_000016.9:g.9382329A>C , CM000678.1:g.9382329A>C GRCh37
NC_000016.8:g.9289830A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933053.1:n.84+1220A>C
XR_933054.1:n.70+103739A>C
XR_933057.1:n.84+1220A>C
XR_001752073.1:n.896+1220A>C
XR_933053.2:n.914+1220A>C