Canonical Allele Identifier: CA2407514244
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs2050378575
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998459A>T , CM000684.2:g.43998459A>T GRCh38
NC_000022.10:g.44394339A>T , CM000684.1:g.44394339A>T GRCh37
NC_000022.9:g.42725672A>T NCBI36
NG_029057.1:g.48079A>T
NG_029743.1:g.4249A>T
NG_029057.2:g.48079A>T
NG_029743.2:g.4249A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8053A>T
Search 100 bp 5'
Search 100 bp 3'