Canonical Allele Identifier: CA318813253
Gene:

Linked Data

dbSNP Id: rs144054370

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259271A>T , CM000683.2:g.22259271A>T GRCh38
NC_000021.8:g.23631591A>T , CM000683.1:g.23631591A>T GRCh37
NC_000021.7:g.22553462A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46458A>T