Canonical Allele Identifier: CA753479398
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs766720376
gnomAD v3: 22-43998533-G-C
gnomAD v4: 22-43998533-G-C
MyVariant Identifiers: chr22:g.44394413G>C (hg19) chr22:g.43998533G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998533G>C , CM000684.2:g.43998533G>C GRCh38
NC_000022.10:g.44394413G>C , CM000684.1:g.44394413G>C GRCh37
NC_000022.9:g.42725746G>C NCBI36
NG_029743.1:g.4323G>C
NG_029743.2:g.4323G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465768.1:n.79+8127G>C
Search 100 bp 5'
Search 100 bp 3'