Canonical Allele Identifier: CA449730153
Community Standard Title: NM_001365276.2(TNXB):c.12528C>T (p.Asn4176=)
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041876G>A , CM000668.2:g.32041876G>A GRCh38
NC_000006.11:g.32009653G>A , CM000668.1:g.32009653G>A GRCh37
NC_000006.10:g.32117632G>A NCBI36
NG_007941.2:g.8569G>A
NG_008337.2:g.72499C>T
NG_007941.3:g.8572G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.12528C>T MANE Select NP_001352205.1:p.Asn4176=
ENST00000644971.2:c.12528C>T MANE Select ENSP00000496448.1:p.Asn4176=
NM_001365276.1:c.12528C>T NP_001352205.1:p.Asn4176=
NM_019105.6:c.12522C>T NP_061978.6:p.Asn4174=
NM_019105.7:c.12522C>T NP_061978.6:p.Asn4174=
NM_019105.8:c.12522C>T NP_061978.6:p.Asn4174=
NM_032470.3:c.1815C>T NP_115859.2:p.Asn605=
NM_032470.4:c.1815C>T NP_115859.2:p.Asn605=
ENST00000375244.7:c.12528C>T ENSP00000364393.3:p.Asn4176=
ENST00000451343.4:c.1815C>T ENSP00000407685.1:p.Asn605=
ENST00000490077.5:n.2355C>T
ENST00000611016.2:c.5682C>T ENSP00000483409.1:p.Asn1894=
ENST00000647633.1:c.13269C>T ENSP00000497649.1:p.Asn4423=