Canonical Allele Identifier: CA1581765788
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129386840C= , CM000667.2:g.129386840C= GRCh38
NC_000005.9:g.128722533C= , CM000667.1:g.128722533C= GRCh37
NC_000005.8:g.128750432C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427770.2:n.163-1608C=
XR_948774.1:n.235-5811C=
XR_001742463.1:n.4089-1608C=
XR_001742464.1:n.2019-5811C=
XR_001742465.1:n.401-1608C=
XR_427770.3:n.337-1608C=