Canonical Allele Identifier: CA2341104200
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837502T= , CM000681.2:g.50837502T= GRCh38
NC_000019.9:g.51340758T= , CM000681.1:g.51340758T= GRCh37
NC_000019.8:g.56032570T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6209T=
NR_131205.1:n.230+6209T=
XR_936030.1:n.298+6209T=
XR_936031.1:n.298+6209T=
XR_936032.1:n.298+6209T=
XR_936033.1:n.294+6209T=
XR_936035.1:n.281+6209T=