Canonical Allele Identifier: CA3735184
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32084405T>C , CM000668.2:g.32084405T>C GRCh38
NC_000006.11:g.32052182T>C , CM000668.1:g.32052182T>C GRCh37
NC_000006.10:g.32160160T>C NCBI36
NG_008337.2:g.29970A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.3445+8A>G MANE Select NP_001352205.1:n.3445+8A>G
ENST00000644971.2:c.3445+8A>G MANE Select ENSP00000496448.1:n.3445+8A>G
NM_001365276.1:c.3445+8A>G NP_001352205.1:n.3445+8A>G
NM_019105.6:c.3445+8A>G NP_061978.6:n.3445+8A>G
NM_019105.7:c.3445+8A>G NP_061978.6:n.3445+8A>G
NM_019105.8:c.3445+8A>G NP_061978.6:n.3445+8A>G
ENST00000375244.7:c.3445+8A>G ENSP00000364393.3:n.3445+8A>G
ENST00000613214.4:c.3706+8A>G ENSP00000480067.1:n.3706+8A>G
ENST00000647633.1:c.4186+8A>G ENSP00000497649.1:n.4186+8A>G