Canonical Allele Identifier: CA2762880446
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499674C>A , CM000666.2:g.102499674C>A GRCh38
NC_000004.11:g.103420831C>A , CM000666.1:g.103420831C>A GRCh37
NC_000004.10:g.103639863C>A NCBI36
NG_050628.1:g.3346C>A

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1575G>T XP_011530769.1:n.643+1575G>T
NR_136202.1:n.48+2765G>T