Canonical Allele Identifier: CA16174708
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578133C>T , CM000666.2:g.12578133C>T GRCh38
NC_000004.11:g.12579757C>T , CM000666.1:g.12579757C>T GRCh37
NC_000004.10:g.12188855C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31209G>A
XR_001741374.1:n.254+44522G>A
XR_925406.3:n.140+31209G>A