Canonical Allele Identifier: CA10278509
Gene: SAMM50 HGNC NCBI
ClinVar RCV:
RCV004450052
ClinVar Variation:
3157731
COSMIC:
COSM304550
dbSNP:
771203161
gnomAD v2:
22:44368859 C / T
gnomAD v3:
22:43972979 C / T
gnomAD v4:
chr22-43972979-C-T
Joint Max Group AF 0.00010837 (NFE)
Genomes Max Group AF 0.00016877 (SAS)
Exomes Max Group AF 0.00010239 (NFE)
MyVariant.info:
GRCh38 chr22:g.43972979C>T
GRCh37 chr22:g.44368859C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43972979C>T , CM000684.2:g.43972979C>T GRCh38
NC_000022.10:g.44368859C>T , CM000684.1:g.44368859C>T GRCh37
NC_000022.9:g.42700192C>T NCBI36
NG_029057.1:g.22599C>T
NG_029057.2:g.22599C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350028.5:c.538C>T MANE Select ENSP00000345445.4:p.Arg180Trp
ENST00000350028.4:c.538C>T ENSP00000345445.4:p.Arg180Trp
ENST00000493161.1:n.720C>T
NM_015380.4:c.538C>T NP_056195.3:p.Arg180Trp
NM_015380.5:c.538C>T MANE Select NP_056195.3:p.Arg180Trp
Search 100 bp 5'
Search 100 bp 3'