Canonical Allele Identifier: CA1283591753
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120551883C= , CM000664.2:g.120551883C= GRCh38
NC_000002.11:g.121309459C= , CM000664.1:g.121309459C= GRCh37
NC_000002.10:g.121025929C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923262.1:n.1487+5G=
XR_001739680.2:n.1495+5G=
XR_001739681.2:n.2128+5G=
XR_001739682.1:n.1495+5G=
XR_002959417.1:n.1495+5G=