Canonical Allele Identifier: CA395520045
Gene: TBX6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30089083T>G , CM000678.2:g.30089083T>G GRCh38
NC_000016.9:g.30100404T>G , CM000678.1:g.30100404T>G GRCh37
NC_000016.8:g.30007905T>G NCBI36
NG_023283.1:g.7802A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395224.7:c.481A>C MANE Select ENSP00000378650.2:p.Ser161Arg
ENST00000279386.6:c.481A>C ENSP00000279386.2:p.Ser161Arg
ENST00000395224.6:c.481A>C ENSP00000378650.2:p.Ser161Arg
ENST00000553607.1:c.481A>C ENSP00000461223.1:p.Ser161Arg
ENST00000567664.5:c.481A>C ENSP00000460425.1:p.Ser161Arg
ENST00000627355.2:c.481A>C ENSP00000485762.1:p.Ser161Arg
NM_004608.3:c.481A>C NP_004599.2:p.Ser161Arg
XM_005255523.1:c.481A>C XP_005255580.1:p.Ser161Arg
XM_011545926.1:c.481A>C XP_011544228.1:p.Ser161Arg
XR_950840.1:n.1225A>C
XM_005255523.2:c.481A>C XP_005255580.1:p.Ser161Arg
XM_011545926.3:c.481A>C XP_011544228.1:p.Ser161Arg
XM_017023614.1:c.481A>C XP_016879103.1:p.Ser161Arg
XR_950840.3:n.1215A>C
NM_004608.4:c.481A>C MANE Select NP_004599.2:p.Ser161Arg