Canonical Allele Identifier: CA721927938
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55655175C>T , CM000678.2:g.55655175C>T GRCh38
NC_000016.9:g.55689087C>T , CM000678.1:g.55689087C>T GRCh37
NC_000016.8:g.54246588C>T NCBI36
NG_016969.1:g.4546C>T

Transcript Alleles

HGVS Amino-acid Change
XR_933603.1:n.54+424G>A