Canonical Allele Identifier: CA1679780850
Gene: TBXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166157955C>A , CM000668.2:g.166157955C>A GRCh38
NC_000006.11:g.166571443C>A , CM000668.1:g.166571443C>A GRCh37
NC_000006.10:g.166491433C>A NCBI36
NG_012135.1:g.15689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366876.7:c.*360G>T MANE Select ENSP00000355841.3:n.*360G>T
ENST00000296946.6:c.*360G>T ENSP00000296946.2:n.*360G>T
ENST00000366871.7:c.*360G>T ENSP00000355836.3:n.*360G>T
NM_001270484.1:c.*360G>T NP_001257413.1:n.*360G>T
NM_003181.3:c.*360G>T NP_003172.1:n.*360G>T
XM_011536080.1:c.*360G>T XP_011534382.1:n.*360G>T
XM_011536081.1:c.*360G>T XP_011534383.1:n.*360G>T
NM_001366285.1:c.*360G>T NP_001353214.1:n.*360G>T
NM_001366286.1:c.*360G>T NP_001353215.1:n.*360G>T
NM_001270484.2:c.*360G>T NP_001257413.1:n.*360G>T
NM_001366285.2:c.*360G>T MANE Select NP_001353214.1:n.*360G>T
NM_001366286.2:c.*360G>T NP_001353215.1:n.*360G>T
NM_003181.4:c.*360G>T NP_003172.1:n.*360G>T