Canonical Allele Identifier: CA702382
Gene: SH3BGRL3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.26280871C>T
GRCh37 chr1:g.26607362C>T
Revel Score:
ENST00000270792 (MANE Select) 0.193
ENST00000374243 0.193
ENST00000319041 0.193
gnomAD v2:
1:26607362 C / T
gnomAD v3:
1:26280871 C / T
gnomAD v4:
chr1-26280871-C-T
Joint Max Group AF 0.00042888 (MID)
Genomes Max Group AF 0.00005846 (NFE)
Exomes Max Group AF 0.00045291 (MID)
ClinVar RCV:
RCV004212648
ClinVar Variation:
2373606
dbSNP:
201088681
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26280871C>T , CM000663.2:g.26280871C>T GRCh38
NC_000001.10:g.26607362C>T , CM000663.1:g.26607362C>T GRCh37
NC_000001.9:g.26479949C>T NCBI36
NG_028986.1:g.42395G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270792.10:c.155C>T MANE Select ENSP00000270792.5:p.Ala52Val
ENST00000270792.9:c.155C>T ENSP00000270792.5:p.Ala52Val
ENST00000319041.6:c.155C>T ENSP00000363358.3:p.Ala52Val
ENST00000614679.2:c.554C>T ENSP00000479107.1:p.Ala185Val
NM_031286.3:c.155C>T NP_112576.1:p.Ala52Val
NM_031286.4:c.155C>T MANE Select NP_112576.1:p.Ala52Val
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