Canonical Allele Identifier: CA2407514231
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs2050378367
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998441T>C , CM000684.2:g.43998441T>C GRCh38
NC_000022.10:g.44394321T>C , CM000684.1:g.44394321T>C GRCh37
NC_000022.9:g.42725654T>C NCBI36
NG_029057.1:g.48061T>C
NG_029743.1:g.4231T>C
NG_029057.2:g.48061T>C
NG_029743.2:g.4231T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465768.1:n.79+8035T>C
Search 100 bp 5'
Search 100 bp 3'