Canonical Allele Identifier: CA10278548
Gene: SAMM50 HGNC NCBI
ClinVar RCV:
RCV004194279
ClinVar Variation:
2351146
dbSNP:
374982740
gnomAD v2:
22:44369137 A / T
gnomAD v3:
22:43973257 A / T
gnomAD v4:
chr22-43973257-A-T
Joint Max Group AF 0.00004213 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00004298 (NFE)
MyVariant.info:
GRCh38 chr22:g.43973257A>T
GRCh37 chr22:g.44369137A>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43973257A>T , CM000684.2:g.43973257A>T GRCh38
NC_000022.10:g.44369137A>T , CM000684.1:g.44369137A>T GRCh37
NC_000022.9:g.42700470A>T NCBI36
NG_029057.1:g.22877A>T
NG_029057.2:g.22877A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350028.5:c.582A>T MANE Select ENSP00000345445.4:p.Lys194Asn
ENST00000350028.4:c.582A>T ENSP00000345445.4:p.Lys194Asn
ENST00000493161.1:n.764A>T
NM_015380.4:c.582A>T NP_056195.3:p.Lys194Asn
NM_015380.5:c.582A>T MANE Select NP_056195.3:p.Lys194Asn
Search 100 bp 5'
Search 100 bp 3'