Canonical Allele Identifier: CA2681152279

Gene: TBXT

Linked Data

• gnomAD v4: 6-166160690-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166160690C>A , CM000668.2:g.166160690C>A	GRCh38
NC_000006.11:g.166574178C>A , CM000668.1:g.166574178C>A	GRCh37
NC_000006.10:g.166494168C>A	NCBI36
NG_012135.1:g.12954G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366876.7:c.1037+147G>T MANE Select	ENSP00000355841.3:n.1037+147G>T
ENST00000296946.6:c.1034+147G>T	ENSP00000296946.2:n.1034+147G>T
ENST00000366871.7:c.860+147G>T	ENSP00000355836.3:n.860+147G>T
ENST00000366876.6:c.1037+147G>T	ENSP00000355841.2:n.1037+147G>T
NM_001270484.1:c.860+147G>T	NP_001257413.1:n.860+147G>T
NM_003181.3:c.1034+147G>T	NP_003172.1:n.1034+147G>T
XM_011536080.1:c.1037+147G>T	XP_011534382.1:n.1037+147G>T
XM_011536081.1:c.860+147G>T	XP_011534383.1:n.860+147G>T
NM_001366285.1:c.1037+147G>T	NP_001353214.1:n.1037+147G>T
NM_001366286.1:c.1037+147G>T	NP_001353215.1:n.1037+147G>T
NM_001270484.2:c.860+147G>T	NP_001257413.1:n.860+147G>T
NM_001366285.2:c.1037+147G>T MANE Select	NP_001353214.1:n.1037+147G>T
NM_001366286.2:c.1037+147G>T	NP_001353215.1:n.1037+147G>T
NM_003181.4:c.1034+147G>T	NP_003172.1:n.1034+147G>T