Canonical Allele Identifier: CA6809291
Gene: TBX5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.114355435C>T
GRCh37 chr12:g.114793240C>T
Revel Score:
ENST00000448888 0.020
gnomAD v2:
12:114793240 C / T
gnomAD v3:
12:114355435 C / T
gnomAD v4:
chr12-114355435-C-T
Joint Max Group AF 0.72717964 (NFE)
Genomes Max Group AF 0.72045993 (NFE)
Exomes Max Group AF 0.72732072 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114355435C>T , CM000674.2:g.114355435C>T GRCh38
NC_000012.11:g.114793240C>T , CM000674.1:g.114793240C>T GRCh37
NC_000012.10:g.113277623C>T NCBI36
NG_007373.1:g.58008G>A , LRG_670:g.58008G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.*97G>A MANE Select ENSP00000384152.3:n.*97G>A
ENST00000310346.8:c.*97G>A ENSP00000309913.4:n.*97G>A
ENST00000349716.9:c.*97G>A ENSP00000337723.5:n.*97G>A
ENST00000405440.6:c.*97G>A ENSP00000384152.2:n.*97G>A
NM_000192.3:c.*97G>A , LRG_670t1:c.*97G>A NP_000183.2:n.*97G>A
NM_080717.2:c.*97G>A NP_542448.1:n.*97G>A
NM_181486.2:c.*97G>A NP_852259.1:n.*97G>A
XM_017019912.1:c.*97G>A XP_016875401.1:n.*97G>A
NM_080717.3:c.*97G>A NP_542448.1:n.*97G>A
NM_181486.4:c.*97G>A MANE Select NP_852259.1:n.*97G>A
NM_080717.4:c.*97G>A NP_542448.1:n.*97G>A
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