Canonical Allele Identifier: CA2407514288
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs2050379524
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998575C>A , CM000684.2:g.43998575C>A GRCh38
NC_000022.10:g.44394455C>A , CM000684.1:g.44394455C>A GRCh37
NC_000022.9:g.42725788C>A NCBI36
NG_029743.1:g.4365C>A
NG_029743.2:g.4365C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465768.1:n.79+8169C>A
Search 100 bp 5'
Search 100 bp 3'