Canonical Allele Identifier: CA2332763343
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33522068C= , CM000681.2:g.33522068C= GRCh38
NC_000019.9:g.34012974C= , CM000681.1:g.34012974C= GRCh37
NC_000019.8:g.38704814C= NCBI36
NG_013358.1:g.4826G=
NG_013358.2:g.4826G=

Transcript Alleles

HGVS Amino-acid Change
XR_935918.1:n.73+54C=
XR_935919.1:n.72+50C=
XR_001754035.2:n.81+54C=
XR_935918.2:n.81+54C=