Canonical Allele Identifier: CA16519690
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15947911G>A , CM000678.2:g.15947911G>A GRCh38
NC_000016.9:g.16041768G>A , CM000678.1:g.16041768G>A GRCh37
NC_000016.8:g.15949269G>A NCBI36
NG_028268.1:g.3335G>A
NG_028268.2:g.3335G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001752339.1:n.594+880C>T