Canonical Allele Identifier: CA822189014

Gene: TBXT

Linked Data

• dbSNP Id: rs796436029
• gnomAD v3: 6-166160679-C-G
• gnomAD v4: 6-166160679-C-G
• MyVariant Identifiers: chr6:g.166574167C>G (hg19) ; chr6:g.166160679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166160679C>G , CM000668.2:g.166160679C>G	GRCh38
NC_000006.11:g.166574167C>G , CM000668.1:g.166574167C>G	GRCh37
NC_000006.10:g.166494157C>G	NCBI36
NG_012135.1:g.12965G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366876.7:c.1037+158G>C MANE Select	ENSP00000355841.3:n.1037+158G>C
ENST00000296946.6:c.1034+158G>C	ENSP00000296946.2:n.1034+158G>C
ENST00000366871.7:c.860+158G>C	ENSP00000355836.3:n.860+158G>C
ENST00000366876.6:c.1037+158G>C	ENSP00000355841.2:n.1037+158G>C
NM_001270484.1:c.860+158G>C	NP_001257413.1:n.860+158G>C
NM_003181.3:c.1034+158G>C	NP_003172.1:n.1034+158G>C
XM_011536080.1:c.1037+158G>C	XP_011534382.1:n.1037+158G>C
XM_011536081.1:c.860+158G>C	XP_011534383.1:n.860+158G>C
NM_001366285.1:c.1037+158G>C	NP_001353214.1:n.1037+158G>C
NM_001366286.1:c.1037+158G>C	NP_001353215.1:n.1037+158G>C
NM_001270484.2:c.860+158G>C	NP_001257413.1:n.860+158G>C
NM_001366285.2:c.1037+158G>C MANE Select	NP_001353214.1:n.1037+158G>C
NM_001366286.2:c.1037+158G>C	NP_001353215.1:n.1037+158G>C
NM_003181.4:c.1034+158G>C	NP_003172.1:n.1034+158G>C