Canonical Allele Identifier: CA198674
Gene: TBX6 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.30089130G>A
GRCh37 chr16:g.30100451G>A
Revel Score:
ENST00000395224 (MANE Select) 0.736
ENST00000279386 0.736
ENST00000553607 0.736
gnomAD v2:
16:30100451 G / A
gnomAD v3:
16:30089130 G / A
gnomAD v4:
chr16-30089130-G-A
Joint Max Group AF 0.00051877 (EAS)
Genomes Max Group AF 0.00050505 (EAS)
Exomes Max Group AF 0.00045844 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30089130G>A , CM000678.2:g.30089130G>A GRCh38
NC_000016.9:g.30100451G>A , CM000678.1:g.30100451G>A GRCh37
NC_000016.8:g.30007952G>A NCBI36
NG_023283.1:g.7755C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395224.7:c.434C>T MANE Select ENSP00000378650.2:p.Pro145Leu
ENST00000279386.6:c.434C>T ENSP00000279386.2:p.Pro145Leu
ENST00000395224.6:c.434C>T ENSP00000378650.2:p.Pro145Leu
ENST00000553607.1:c.434C>T ENSP00000461223.1:p.Pro145Leu
ENST00000567664.5:c.434C>T ENSP00000460425.1:p.Pro145Leu
ENST00000627355.2:c.434C>T ENSP00000485762.1:p.Pro145Leu
NM_004608.3:c.434C>T NP_004599.2:p.Pro145Leu
XM_005255523.1:c.434C>T XP_005255580.1:p.Pro145Leu
XM_011545926.1:c.434C>T XP_011544228.1:p.Pro145Leu
XR_950840.1:n.1178C>T
XM_005255523.2:c.434C>T XP_005255580.1:p.Pro145Leu
XM_011545926.3:c.434C>T XP_011544228.1:p.Pro145Leu
XM_017023614.1:c.434C>T XP_016879103.1:p.Pro145Leu
XR_950840.3:n.1168C>T
NM_004608.4:c.434C>T MANE Select NP_004599.2:p.Pro145Leu
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