Canonical Allele Identifier: CA363521642
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32043073C>T , CM000668.2:g.32043073C>T GRCh38
NC_000006.11:g.32010850C>T , CM000668.1:g.32010850C>T GRCh37
NC_000006.10:g.32118829C>T NCBI36
NG_007941.2:g.9766C>T
NG_008337.2:g.71302G>A
NG_007941.3:g.9769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.11803G>A MANE Select ENSP00000496448.1:p.Ala3935Thr
ENST00000647633.1:c.12544G>A ENSP00000497649.1:p.Ala4182Thr
ENST00000375244.7:c.11803G>A ENSP00000364393.3:p.Ala3935Thr
ENST00000451343.4:c.1090G>A ENSP00000407685.1:p.Ala364Thr
ENST00000490077.5:n.1630G>A
ENST00000498094.1:n.169G>A
ENST00000611016.2:c.4957G>A ENSP00000483409.1:p.Ala1653Thr
NM_019105.6:c.11797G>A NP_061978.6:p.Ala3933Thr
NM_032470.3:c.1090G>A NP_115859.2:p.Ala364Thr
NM_001365276.1:c.11803G>A NP_001352205.1:p.Ala3935Thr
NM_019105.7:c.11797G>A NP_061978.6:p.Ala3933Thr
NM_001365276.2:c.11803G>A MANE Select NP_001352205.1:p.Ala3935Thr
NM_019105.8:c.11797G>A NP_061978.6:p.Ala3933Thr
NM_032470.4:c.1090G>A NP_115859.2:p.Ala364Thr