Canonical Allele Identifier: CA2762880462
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499924T>G , CM000666.2:g.102499924T>G GRCh38
NC_000004.11:g.103421081T>G , CM000666.1:g.103421081T>G GRCh37
NC_000004.10:g.103640113T>G NCBI36
NG_050628.1:g.3596T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1325A>C XP_011530769.1:n.643+1325A>C
NR_136202.1:n.48+2515A>C