Canonical Allele Identifier: CA753479384
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs1265618166
gnomAD v3: 22-43998463-C-G
gnomAD v4: 22-43998463-C-G
MyVariant Identifiers: chr22:g.44394343C>G (hg19) chr22:g.43998463C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998463C>G , CM000684.2:g.43998463C>G GRCh38
NC_000022.10:g.44394343C>G , CM000684.1:g.44394343C>G GRCh37
NC_000022.9:g.42725676C>G NCBI36
NG_029057.1:g.48083C>G
NG_029743.1:g.4253C>G
NG_029057.2:g.48083C>G
NG_029743.2:g.4253C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8057C>G
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Search 100 bp 3'