Canonical Allele Identifier: CA6143878
Gene: TBX10 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.67632630C>A
GRCh37 chr11:g.67400101C>A
Revel Score:
ENST00000335385 (MANE Select) 0.957
gnomAD v2:
11:67400101 C / A
gnomAD v3:
11:67632630 C / A
gnomAD v4:
chr11-67632630-C-A
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV004172587
ClinVar Variation:
2330926
dbSNP:
770623718
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67632630C>A , CM000673.2:g.67632630C>A GRCh38
NC_000011.9:g.67400101C>A , CM000673.1:g.67400101C>A GRCh37
NC_000011.8:g.67156677C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335385.4:c.746G>T MANE Select ENSP00000335191.3:p.Gly249Val
ENST00000335385.3:c.746G>T ENSP00000335191.3:p.Gly249Val
NM_005995.4:c.746G>T NP_005986.2:p.Gly249Val
XM_011544992.1:c.881G>T XP_011543294.1:p.Gly294Val
XM_011544993.1:c.263G>T XP_011543295.1:p.Gly88Val
XM_011544992.2:c.881G>T XP_011543294.1:p.Gly294Val
NM_005995.5:c.746G>T MANE Select NP_005986.2:p.Gly249Val
Search 100 bp 5'
Search 100 bp 3'