Canonical Allele Identifier: CA3733094
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32044469G>A , CM000668.2:g.32044469G>A GRCh38
NC_000006.11:g.32012246G>A , CM000668.1:g.32012246G>A GRCh37
NC_000006.10:g.32120225G>A NCBI36
NG_008337.2:g.69906C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.11175C>T MANE Select NP_001352205.1:p.Ser3725=
ENST00000644971.2:c.11175C>T MANE Select ENSP00000496448.1:p.Ser3725=
NM_001365276.1:c.11175C>T NP_001352205.1:p.Ser3725=
NM_019105.6:c.11169C>T NP_061978.6:p.Ser3723=
NM_019105.7:c.11169C>T NP_061978.6:p.Ser3723=
NM_019105.8:c.11169C>T NP_061978.6:p.Ser3723=
NM_032470.3:c.462C>T NP_115859.2:p.Ser154=
NM_032470.4:c.462C>T NP_115859.2:p.Ser154=
ENST00000375244.7:c.11175C>T ENSP00000364393.3:p.Ser3725=
ENST00000451343.4:c.462C>T ENSP00000407685.1:p.Ser154=
ENST00000490077.5:n.1002C>T
ENST00000611016.2:c.4329C>T ENSP00000483409.1:p.Ser1443=
ENST00000647633.1:c.11916C>T ENSP00000497649.1:p.Ser3972=