Canonical Allele Identifier: CA1026114932
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs184910389
gnomAD v3: 22-43998527-T-G
gnomAD v4: 22-43998527-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998527T>G , CM000684.2:g.43998527T>G GRCh38
NC_000022.10:g.44394407T>G , CM000684.1:g.44394407T>G GRCh37
NC_000022.9:g.42725740T>G NCBI36
NG_029057.1:g.48147T>G
NG_029743.1:g.4317T>G
NG_029057.2:g.48147T>G
NG_029743.2:g.4317T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465768.1:n.79+8121T>G
Search 100 bp 5'
Search 100 bp 3'