Canonical Allele Identifier: CA12441396
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32079659C>G , CM000668.2:g.32079659C>G GRCh38
NC_000006.11:g.32047436C>G , CM000668.1:g.32047436C>G GRCh37
NC_000006.10:g.32155414C>G NCBI36
NG_008337.2:g.34716G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.4043-294G>C MANE Select NP_001352205.1:n.4043-294G>C
ENST00000644971.2:c.4043-294G>C MANE Select ENSP00000496448.1:n.4043-294G>C
NM_001365276.1:c.4043-294G>C NP_001352205.1:n.4043-294G>C
NM_019105.6:c.4043-294G>C NP_061978.6:n.4043-294G>C
NM_019105.7:c.4043-294G>C NP_061978.6:n.4043-294G>C
NM_019105.8:c.4043-294G>C NP_061978.6:n.4043-294G>C
ENST00000375244.7:c.4043-294G>C ENSP00000364393.3:n.4043-294G>C
ENST00000613214.4:c.4304-294G>C ENSP00000480067.1:n.4304-294G>C
ENST00000647633.1:c.4784-294G>C ENSP00000497649.1:n.4784-294G>C