Canonical Allele Identifier: CA2407514250
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs1603421178
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998465G>C , CM000684.2:g.43998465G>C GRCh38
NC_000022.10:g.44394345G>C , CM000684.1:g.44394345G>C GRCh37
NC_000022.9:g.42725678G>C NCBI36
NG_029057.1:g.48085G>C
NG_029743.1:g.4255G>C
NG_029057.2:g.48085G>C
NG_029743.2:g.4255G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465768.1:n.79+8059G>C
Search 100 bp 5'
Search 100 bp 3'