Canonical Allele Identifier: CA2332763364
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33522117C= , CM000681.2:g.33522117C= GRCh38
NC_000019.9:g.34013023C= , CM000681.1:g.34013023C= GRCh37
NC_000019.8:g.38704863C= NCBI36
NG_013358.1:g.4777G=
NG_013358.2:g.4777G=

Transcript Alleles

HGVS Amino-acid Change
XR_935918.1:n.73+103C=
XR_935919.1:n.72+99C=
XR_001754035.2:n.81+103C=
XR_935918.2:n.81+103C=