Canonical Allele Identifier: CA324877615
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs965058040
gnomAD v2: 22-44394408-A-G
MyVariant Identifiers: chr22:g.44394408A>G (hg19) chr22:g.43998528A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998528A>G , CM000684.2:g.43998528A>G GRCh38
NC_000022.10:g.44394408A>G , CM000684.1:g.44394408A>G GRCh37
NC_000022.9:g.42725741A>G NCBI36
NG_029057.1:g.48148A>G
NG_029743.1:g.4318A>G
NG_029057.2:g.48148A>G
NG_029743.2:g.4318A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465768.1:n.79+8122A>G
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Search 100 bp 3'