Canonical Allele Identifier: CA4093060
Gene: TBXT HGNC NCBI
COSMIC:
COSM4160357 (not active)
MyVariant.info:
GRCh38 chr6:g.166165782C>T
GRCh37 chr6:g.166579270C>T
Revel Score:
ENST00000366876 (MANE Select) 0.292
ENST00000296946 0.292
ENST00000366871 0.292
gnomAD v2:
6:166579270 C / T
gnomAD v3:
6:166165782 C / T
gnomAD v4:
chr6-166165782-C-T
Joint Max Group AF 0.52115613 (AMR)
Genomes Max Group AF 0.50539154 (NFE)
Exomes Max Group AF 0.52745069 (AMR)
ClinVar RCV:
RCV001641636
RCV001815598
ClinVar Variation:
1242832
dbSNP:
2305089
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166165782C>T , CM000668.2:g.166165782C>T GRCh38
NC_000006.11:g.166579270C>T , CM000668.1:g.166579270C>T GRCh37
NC_000006.10:g.166499260C>T NCBI36
NG_012135.1:g.7862G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366876.7:c.530G>A MANE Select ENSP00000355841.3:p.Gly177Asp
ENST00000296946.6:c.530G>A ENSP00000296946.2:p.Gly177Asp
ENST00000366871.7:c.530G>A ENSP00000355836.3:p.Gly177Asp
ENST00000366876.6:c.530G>A ENSP00000355841.2:p.Gly177Asp
ENST00000461348.2:c.530G>A ENSP00000453512.1:p.Gly177Asp
NM_001270484.1:c.530G>A NP_001257413.1:p.Gly177Asp
NM_003181.3:c.530G>A NP_003172.1:p.Gly177Asp
XM_011536080.1:c.530G>A XP_011534382.1:p.Gly177Asp
XM_011536081.1:c.530G>A XP_011534383.1:p.Gly177Asp
NM_001366285.1:c.530G>A NP_001353214.1:p.Gly177Asp
NM_001366286.1:c.530G>A NP_001353215.1:p.Gly177Asp
NM_001270484.2:c.530G>A NP_001257413.1:p.Gly177Asp
NM_001366285.2:c.530G>A MANE Select NP_001353214.1:p.Gly177Asp
NM_001366286.2:c.530G>A NP_001353215.1:p.Gly177Asp
NM_003181.4:c.530G>A NP_003172.1:p.Gly177Asp
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