Canonical Allele Identifier: CA363439108
Gene: TNXB HGNC NCBI

Linked Data

gnomAD v3: 6-32082300-T-G
gnomAD v4: 6-32082300-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32082300T>G , CM000668.2:g.32082300T>G GRCh38
NC_000006.11:g.32050077T>G , CM000668.1:g.32050077T>G GRCh37
NC_000006.10:g.32158055T>G NCBI36
NG_008337.2:g.32075A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644971.2:c.3472A>C MANE Select ENSP00000496448.1:p.Thr1158Pro
ENST00000647633.1:c.4213A>C ENSP00000497649.1:p.Thr1405Pro
ENST00000375244.7:c.3472A>C ENSP00000364393.3:p.Thr1158Pro
ENST00000613214.4:c.3733A>C ENSP00000480067.1:p.Thr1245Pro
NM_019105.6:c.3472A>C NP_061978.6:p.Thr1158Pro
NM_001365276.1:c.3472A>C NP_001352205.1:p.Thr1158Pro
NM_019105.7:c.3472A>C NP_061978.6:p.Thr1158Pro
NM_001365276.2:c.3472A>C MANE Select NP_001352205.1:p.Thr1158Pro
NM_019105.8:c.3472A>C NP_061978.6:p.Thr1158Pro