Canonical Allele Identifier: CA753479382
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs1247635723
gnomAD v3: 22-43998444-T-A
gnomAD v4: 22-43998444-T-A
MyVariant Identifiers: chr22:g.44394324T>A (hg19) chr22:g.43998444T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998444T>A , CM000684.2:g.43998444T>A GRCh38
NC_000022.10:g.44394324T>A , CM000684.1:g.44394324T>A GRCh37
NC_000022.9:g.42725657T>A NCBI36
NG_029057.1:g.48064T>A
NG_029743.1:g.4234T>A
NG_029057.2:g.48064T>A
NG_029743.2:g.4234T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8038T>A
Search 100 bp 5'
Search 100 bp 3'