Canonical Allele Identifier: CA16287169

Gene: TBXT

Genomic Alleles

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

Transcript Alleles

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