Canonical Allele Identifier: CA318388
Gene: SLC25A22 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.792367C>T
GRCh37 chr11:g.792367C>T
Revel Score:
ENST00000320230 0.405
ENST00000531214 0.405
ENST00000481290 0.405
gnomAD v2:
11:792367 C / T
gnomAD v3:
11:792367 C / T
gnomAD v4:
chr11-792367-C-T
Joint Max Group AF 0.00060401 (AMR)
Genomes Max Group AF 0.00174491 (AMR)
Exomes Max Group AF 0.0001374 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.792367C>T , CM000673.2:g.792367C>T GRCh38
NC_000011.9:g.792367C>T , CM000673.1:g.792367C>T GRCh37
NC_000011.8:g.782367C>T NCBI36
NG_023407.1:g.10903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000628067.3:c.679G>A MANE Select ENSP00000486058.1:p.Val227Met
ENST00000320230.9:c.679G>A ENSP00000322020.5:p.Val227Met
ENST00000481290.5:c.754G>A ENSP00000431829.2:p.Val252Met
ENST00000531214.5:c.679G>A ENSP00000437236.1:p.Val227Met
ENST00000627843.2:c.679G>A ENSP00000486512.1:p.Val227Met
ENST00000628067.2:c.679G>A ENSP00000486058.1:p.Val227Met
ENST00000630809.2:n.547G>A
NM_001191060.1:c.679G>A NP_001177989.1:p.Val227Met
NM_001191061.1:c.679G>A NP_001177990.1:p.Val227Met
NM_024698.5:c.679G>A NP_078974.1:p.Val227Met
XM_011520369.1:c.679G>A XP_011518671.1:p.Val227Met
XM_011520370.1:c.679G>A XP_011518672.1:p.Val227Met
XM_011520371.1:c.679G>A XP_011518673.1:p.Val227Met
XM_011520370.2:c.679G>A XP_011518672.1:p.Val227Met
XM_011520371.2:c.679G>A XP_011518673.1:p.Val227Met
XM_024448687.1:c.679G>A XP_024304455.1:p.Val227Met
XM_024448688.1:c.679G>A XP_024304456.1:p.Val227Met
XM_024448689.1:c.679G>A XP_024304457.1:p.Val227Met
NM_001191061.2:c.679G>A MANE Select NP_001177990.1:p.Val227Met
NM_024698.6:c.679G>A NP_078974.1:p.Val227Met
NM_001191060.2:c.679G>A NP_001177989.1:p.Val227Met
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