Canonical Allele Identifier: CA1610684684
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943319C= , CM000668.2:g.11943319C= GRCh38
NC_000006.11:g.11943552C= , CM000668.1:g.11943552C= GRCh37
NC_000006.10:g.12051538C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8216C=