Canonical Allele Identifier: CA170658
Gene: TNXB HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32081419C>T
GRCh37 chr6:g.32049196C>T
Revel Score:
ENST00000375244 0.643
ENST00000375247 0.643
gnomAD v2:
6:32049196 C / T
gnomAD v3:
6:32081419 C / T
gnomAD v4:
chr6-32081419-C-T
Joint Max Group AF 0.000009 (NFE)
Exomes Max Group AF 0.00000875 (NFE)
ClinVar RCV:
RCV000133611
ClinVar Variation:
144114
dbSNP:
587777684
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32081419C>T , CM000668.2:g.32081419C>T GRCh38
NC_000006.11:g.32049196C>T , CM000668.1:g.32049196C>T GRCh37
NC_000006.10:g.32157174C>T NCBI36
NG_008337.2:g.32956G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.3991G>A MANE Select ENSP00000496448.1:p.Gly1331Arg
ENST00000647633.1:c.4732G>A ENSP00000497649.1:p.Gly1578Arg
ENST00000375244.7:c.3991G>A ENSP00000364393.3:p.Gly1331Arg
ENST00000613214.4:c.4252G>A ENSP00000480067.1:p.Gly1418Arg
NM_019105.6:c.3991G>A NP_061978.6:p.Gly1331Arg
NM_001365276.1:c.3991G>A NP_001352205.1:p.Gly1331Arg
NM_019105.7:c.3991G>A NP_061978.6:p.Gly1331Arg
NM_001365276.2:c.3991G>A MANE Select NP_001352205.1:p.Gly1331Arg
NM_019105.8:c.3991G>A NP_061978.6:p.Gly1331Arg
Search 100 bp 5'
Search 100 bp 3'