Canonical Allele Identifier: CA2327233317
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.20218476C= , CM000681.2:g.20218476C= GRCh38
NC_000019.9:g.20329285C= , CM000681.1:g.20329285C= GRCh37
NC_000019.8:g.20190285C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_936388.1:n.619-1160G=
XR_936389.1:n.502-1160G=
XR_936390.1:n.511-1160G=
XR_936391.1:n.514-1160G=
XR_936392.1:n.514-1160G=
XR_936394.1:n.41-258C=
XR_001754063.2:n.1506-1160G=
XR_001754064.2:n.138-1160G=
XR_001754066.1:n.3912-1160G=
XR_001754067.1:n.3912-1160G=
XR_001754068.1:n.3912-1160G=
XR_936394.2:n.41-258C=
XR_936406.2:n.1411-1160G=