Canonical Allele Identifier: CA2332763370
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33522127C= , CM000681.2:g.33522127C= GRCh38
NC_000019.9:g.34013033C= , CM000681.1:g.34013033C= GRCh37
NC_000019.8:g.38704873C= NCBI36
NG_013358.1:g.4767G=
NG_013358.2:g.4767G=

Transcript Alleles

HGVS Amino-acid Change
XR_935918.1:n.73+113C=
XR_935919.1:n.72+109C=
XR_001754035.2:n.81+113C=
XR_935918.2:n.81+113C=