Canonical Allele Identifier: CA8264466
Gene: TIMM22 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.998973T>G
GRCh37 chr17:g.902213T>G
Revel Score:
ENST00000327158 (MANE Select) 0.147
gnomAD v2:
17:902213 T / G
gnomAD v3:
17:998973 T / G
gnomAD v4:
chr17-998973-T-G
Joint Max Group AF 0.00000444 (AFR)
ClinVar Allele:
2313789
ClinVar RCV:
RCV004164121
ClinVar Variation:
2319702
dbSNP:
747691559
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.998973T>G , CM000679.2:g.998973T>G GRCh38
NC_000017.10:g.902213T>G , CM000679.1:g.902213T>G GRCh37
NC_000017.9:g.848963T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000327158.5:c.433T>G MANE Select ENSP00000320236.2:p.Ser145Ala
ENST00000327158.4:c.433T>G ENSP00000320236.2:p.Ser145Ala
NM_013337.2:c.433T>G NP_037469.2:p.Ser145Ala
NM_013337.3:c.433T>G NP_037469.2:p.Ser145Ala
NM_013337.4:c.433T>G MANE Select NP_037469.2:p.Ser145Ala
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