Canonical Allele Identifier: CA2407514282
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs2050379343

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998557G>A , CM000684.2:g.43998557G>A GRCh38
NC_000022.10:g.44394437G>A , CM000684.1:g.44394437G>A GRCh37
NC_000022.9:g.42725770G>A NCBI36
NG_029743.1:g.4347G>A
NG_029743.2:g.4347G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465768.1:n.79+8151G>A