Canonical Allele Identifier: CA324877613
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs1019563104
MyVariant Identifiers: chr22:g.44394404G>A (hg19) chr22:g.43998524G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998524G>A , CM000684.2:g.43998524G>A GRCh38
NC_000022.10:g.44394404G>A , CM000684.1:g.44394404G>A GRCh37
NC_000022.9:g.42725737G>A NCBI36
NG_029057.1:g.48144G>A
NG_029743.1:g.4314G>A
NG_029057.2:g.48144G>A
NG_029743.2:g.4314G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8118G>A
Search 100 bp 5'
Search 100 bp 3'