Canonical Allele Identifier: CA2633286840
Gene:

Linked Data

dbSNP Id: rs2142469686

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55655482G>A , CM000678.2:g.55655482G>A GRCh38
NC_000016.9:g.55689394G>A , CM000678.1:g.55689394G>A GRCh37
NC_000016.8:g.54246895G>A NCBI36
NG_016969.1:g.4853G>A

Transcript Alleles

HGVS Amino-acid Change
XR_933603.1:n.54+117C>T