Canonical Allele Identifier: CA2122202273
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793551C= , CM000676.2:g.20793551C= GRCh38
NC_000014.8:g.21261710C= , CM000676.1:g.21261710C= GRCh37
NC_000014.7:g.20331550C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+765C=
XR_943585.1:n.585+765C=
XR_001750620.1:n.3271+765C=
XR_001750621.1:n.3271+765C=
XR_001750622.1:n.637+6353G=
XR_001750623.1:n.637+6353G=
XR_001750624.1:n.637+6353G=