Canonical Allele Identifier: CA363513485

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041793T>C , CM000668.2:g.32041793T>C	GRCh38
NC_000006.11:g.32009570T>C , CM000668.1:g.32009570T>C	GRCh37
NC_000006.10:g.32117549T>C	NCBI36
NG_007941.2:g.8486T>C
NG_008337.2:g.72582A>G
NG_007941.3:g.8489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644971.2:c.12611A>G MANE Select	ENSP00000496448.1:p.Tyr4204Cys
ENST00000647633.1:c.13352A>G	ENSP00000497649.1:p.Tyr4451Cys
ENST00000375244.7:c.12611A>G	ENSP00000364393.3:p.Tyr4204Cys
ENST00000451343.4:c.1898A>G	ENSP00000407685.1:p.Tyr633Cys
ENST00000490077.5:n.2438A>G
ENST00000611016.2:c.5765A>G	ENSP00000483409.1:p.Tyr1922Cys
NM_019105.6:c.12605A>G	NP_061978.6:p.Tyr4202Cys
NM_032470.3:c.1898A>G	NP_115859.2:p.Tyr633Cys
NM_001365276.1:c.12611A>G	NP_001352205.1:p.Tyr4204Cys
NM_019105.7:c.12605A>G	NP_061978.6:p.Tyr4202Cys
NM_001365276.2:c.12611A>G MANE Select	NP_001352205.1:p.Tyr4204Cys
NM_019105.8:c.12605A>G	NP_061978.6:p.Tyr4202Cys
NM_032470.4:c.1898A>G	NP_115859.2:p.Tyr633Cys