Canonical Allele Identifier: CA1287750279
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.129276439C= , CM000664.2:g.129276439C= GRCh38
NC_000002.11:g.130034012C= , CM000664.1:g.130034012C= GRCh37
NC_000002.10:g.129750482C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923320.1:n.1133-12511C=