Canonical Allele Identifier: CA3732860
Community Standard Title: NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32042495T>A , CM000668.2:g.32042495T>A GRCh38
NC_000006.11:g.32010272T>A , CM000668.1:g.32010272T>A GRCh37
NC_000006.10:g.32118251T>A NCBI36
NG_007941.2:g.9188T>A
NG_008337.2:g.71880A>T
NG_007941.3:g.9191T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.12170A>T MANE Select NP_001352205.1:p.Asn4057Ile
ENST00000644971.2:c.12170A>T MANE Select ENSP00000496448.1:p.Asn4057Ile
NM_001365276.1:c.12170A>T NP_001352205.1:p.Asn4057Ile
NM_019105.6:c.12164A>T NP_061978.6:p.Asn4055Ile
NM_019105.7:c.12164A>T NP_061978.6:p.Asn4055Ile
NM_019105.8:c.12164A>T NP_061978.6:p.Asn4055Ile
NM_032470.3:c.1457A>T NP_115859.2:p.Asn486Ile
NM_032470.4:c.1457A>T NP_115859.2:p.Asn486Ile
ENST00000375244.7:c.12170A>T ENSP00000364393.3:p.Asn4057Ile
ENST00000451343.4:c.1457A>T ENSP00000407685.1:p.Asn486Ile
ENST00000490077.5:n.1997A>T
ENST00000498094.1:n.655A>T
ENST00000611016.2:c.5324A>T ENSP00000483409.1:p.Asn1775Ile
ENST00000647633.1:c.12911A>T ENSP00000497649.1:p.Asn4304Ile