Canonical Allele Identifier: CA1026114945
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs2050379579
gnomAD v3: 22-43998586-C-T
gnomAD v4: 22-43998586-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998586C>T , CM000684.2:g.43998586C>T GRCh38
NC_000022.10:g.44394466C>T , CM000684.1:g.44394466C>T GRCh37
NC_000022.9:g.42725799C>T NCBI36
NG_029743.1:g.4376C>T
NG_029743.2:g.4376C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8180C>T
Search 100 bp 5'
Search 100 bp 3'