Canonical Allele Identifier: CA2527368978

Gene: TBXT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166160567A>G , CM000668.2:g.166160567A>G	GRCh38
NC_000006.11:g.166574055A>G , CM000668.1:g.166574055A>G	GRCh37
NC_000006.10:g.166494045A>G	NCBI36
NG_012135.1:g.13077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366876.7:c.1037+270T>C MANE Select	ENSP00000355841.3:n.1037+270T>C
ENST00000296946.6:c.1034+270T>C	ENSP00000296946.2:n.1034+270T>C
ENST00000366871.7:c.860+270T>C	ENSP00000355836.3:n.860+270T>C
ENST00000366876.6:c.1037+270T>C	ENSP00000355841.2:n.1037+270T>C
NM_001270484.1:c.860+270T>C	NP_001257413.1:n.860+270T>C
NM_003181.3:c.1034+270T>C	NP_003172.1:n.1034+270T>C
XM_011536080.1:c.1037+270T>C	XP_011534382.1:n.1037+270T>C
XM_011536081.1:c.860+270T>C	XP_011534383.1:n.860+270T>C
NM_001366285.1:c.1037+270T>C	NP_001353214.1:n.1037+270T>C
NM_001366286.1:c.1037+270T>C	NP_001353215.1:n.1037+270T>C
NM_001270484.2:c.860+270T>C	NP_001257413.1:n.860+270T>C
NM_001366285.2:c.1037+270T>C MANE Select	NP_001353214.1:n.1037+270T>C
NM_001366286.2:c.1037+270T>C	NP_001353215.1:n.1037+270T>C
NM_003181.4:c.1034+270T>C	NP_003172.1:n.1034+270T>C