Canonical Allele Identifier: CA753479406
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs1170332747
MyVariant Identifiers: chr22:g.44394453A>T (hg19) chr22:g.43998573A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998573A>T , CM000684.2:g.43998573A>T GRCh38
NC_000022.10:g.44394453A>T , CM000684.1:g.44394453A>T GRCh37
NC_000022.9:g.42725786A>T NCBI36
NG_029743.1:g.4363A>T
NG_029743.2:g.4363A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465768.1:n.79+8167A>T
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