Canonical Allele Identifier: CA324877598
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs567335084
gnomAD v2: 22-44394311-C-T
gnomAD v3: 22-43998431-C-T
gnomAD v4: 22-43998431-C-T
MyVariant Identifiers: chr22:g.44394311C>T (hg19) chr22:g.43998431C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998431C>T , CM000684.2:g.43998431C>T GRCh38
NC_000022.10:g.44394311C>T , CM000684.1:g.44394311C>T GRCh37
NC_000022.9:g.42725644C>T NCBI36
NG_029057.1:g.48051C>T
NG_029743.1:g.4221C>T
NG_029057.2:g.48051C>T
NG_029743.2:g.4221C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8025C>T
Search 100 bp 5'
Search 100 bp 3'