Canonical Allele Identifier: CA3735168
Gene: TNXB HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32082290T>C
GRCh37 chr6:g.32050067T>C
Revel Score:
ENST00000375244 0.065
ENST00000375247 0.065
gnomAD v2:
6:32050067 T / C
gnomAD v3:
6:32082290 T / C
gnomAD v4:
chr6-32082290-T-C
Joint Max Group AF 0.7358315 (SAS)
Genomes Max Group AF 0.69372018 (SAS)
Exomes Max Group AF 0.73721655 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32082290T>C , CM000668.2:g.32082290T>C GRCh38
NC_000006.11:g.32050067T>C , CM000668.1:g.32050067T>C GRCh37
NC_000006.10:g.32158045T>C NCBI36
NG_008337.2:g.32085A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.3482A>G MANE Select ENSP00000496448.1:p.His1161Arg
ENST00000647633.1:c.4223A>G ENSP00000497649.1:p.His1408Arg
ENST00000375244.7:c.3482A>G ENSP00000364393.3:p.His1161Arg
ENST00000613214.4:c.3743A>G ENSP00000480067.1:p.His1248Arg
NM_019105.6:c.3482A>G NP_061978.6:p.His1161Arg
NM_001365276.1:c.3482A>G NP_001352205.1:p.His1161Arg
NM_019105.7:c.3482A>G NP_061978.6:p.His1161Arg
NM_001365276.2:c.3482A>G MANE Select NP_001352205.1:p.His1161Arg
NM_019105.8:c.3482A>G NP_061978.6:p.His1161Arg
Search 100 bp 5'
Search 100 bp 3'