Canonical Allele Identifier: CA10278456
Gene: SAMM50 HGNC NCBI
ClinVar RCV:
RCV004450050
ClinVar Variation:
3157729
dbSNP:
556789427
gnomAD v2:
22:44368145 G / A
gnomAD v3:
22:43972265 G / A
gnomAD v4:
chr22-43972265-G-A
Joint Max Group AF 0.00003351 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003355 (NFE)
MyVariant.info:
GRCh38 chr22:g.43972265G>A
GRCh37 chr22:g.44368145G>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43972265G>A , CM000684.2:g.43972265G>A GRCh38
NC_000022.10:g.44368145G>A , CM000684.1:g.44368145G>A GRCh37
NC_000022.9:g.42699478G>A NCBI36
NG_029057.1:g.21885G>A
NG_029057.2:g.21885G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350028.5:c.352G>A MANE Select ENSP00000345445.4:p.Val118Ile
ENST00000350028.4:c.352G>A ENSP00000345445.4:p.Val118Ile
ENST00000493161.1:n.534G>A
NM_015380.4:c.352G>A NP_056195.3:p.Val118Ile
NM_015380.5:c.352G>A MANE Select NP_056195.3:p.Val118Ile
Search 100 bp 5'
Search 100 bp 3'