Canonical Allele Identifier: CA324877591
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs144954556
gnomAD v2: 22-44394307-A-C
gnomAD v3: 22-43998427-A-C
gnomAD v4: 22-43998427-A-C
MyVariant Identifiers: chr22:g.44394307A>C (hg19) chr22:g.43998427A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998427A>C , CM000684.2:g.43998427A>C GRCh38
NC_000022.10:g.44394307A>C , CM000684.1:g.44394307A>C GRCh37
NC_000022.9:g.42725640A>C NCBI36
NG_029057.1:g.48047A>C
NG_029743.1:g.4217A>C
NG_029057.2:g.48047A>C
NG_029743.2:g.4217A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8021A>C
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Search 100 bp 3'