Canonical Allele Identifier: CA2327233038
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.20217927G= , CM000681.2:g.20217927G= GRCh38
NC_000019.9:g.20328736G= , CM000681.1:g.20328736G= GRCh37
NC_000019.8:g.20189736G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_936388.1:n.619-611C=
XR_936389.1:n.502-611C=
XR_936390.1:n.511-611C=
XR_936391.1:n.514-611C=
XR_936392.1:n.514-611C=
XR_936394.1:n.41-807G=
XR_001754063.2:n.1506-611C=
XR_001754064.2:n.138-611C=
XR_001754066.1:n.3912-611C=
XR_001754067.1:n.3912-611C=
XR_001754068.1:n.3912-611C=
XR_936394.2:n.41-807G=
XR_936406.2:n.1411-611C=