Canonical Allele Identifier: CA6756278
Community Standard Title: NM_001093771.3(TXNRD1):c.1405A>G (p.Thr469Ala)
Gene: TXNRD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.104327534A>G , CM000674.2:g.104327534A>G GRCh38
NC_000012.11:g.104721312A>G , CM000674.1:g.104721312A>G GRCh37
NC_000012.10:g.103245442A>G NCBI36
NG_029392.1:g.116754A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001093771.3:c.1405A>G MANE Select NP_001087240.1:p.Thr469Ala
ENST00000525566.6:c.1405A>G MANE Select ENSP00000434516.1:p.Thr469Ala
NM_001093771.2:c.1405A>G NP_001087240.1:p.Thr469Ala
NM_001261445.1:c.1105A>G NP_001248374.1:p.Thr369Ala
NM_001261445.2:c.1105A>G NP_001248374.1:p.Thr369Ala
NM_001261446.1:c.841A>G NP_001248375.1:p.Thr281Ala
NM_001261446.2:c.841A>G NP_001248375.1:p.Thr281Ala
NM_003330.3:c.1111A>G NP_003321.3:p.Thr371Ala
NM_003330.4:c.1111A>G NP_003321.3:p.Thr371Ala
NM_182729.2:c.955A>G NP_877393.1:p.Thr319Ala
NM_182729.3:c.955A>G NP_877393.1:p.Thr319Ala
NM_182742.2:c.955A>G NP_877419.1:p.Thr319Ala
NM_182742.3:c.955A>G NP_877419.1:p.Thr319Ala
NM_182743.2:c.955A>G NP_877420.1:p.Thr319Ala
NM_182743.3:c.955A>G NP_877420.1:p.Thr319Ala
ENST00000354940.10:c.955A>G ENSP00000347020.7:p.Thr319Ala
ENST00000388854.7:c.1105A>G ENSP00000373506.4:p.Thr369Ala
ENST00000397736.6:c.841A>G ENSP00000380844.3:p.Thr281Ala
ENST00000429002.6:c.1405A>G ENSP00000412045.4:p.Thr469Ala
ENST00000503506.6:c.955A>G ENSP00000421934.2:p.Thr319Ala
ENST00000524698.5:c.955A>G ENSP00000433425.1:p.Thr319Ala
ENST00000525566.5:c.1405A>G ENSP00000434516.1:p.Thr469Ala
ENST00000526390.5:c.1087A>G ENSP00000435123.1:p.Thr363Ala
ENST00000526691.5:c.1111A>G ENSP00000435929.1:p.Thr371Ala
ENST00000526950.1:c.1162A>G ENSP00000432812.1:p.Thr388Ala
ENST00000526950.2:c.1300A>G ENSP00000432812.2:p.Thr434Ala
ENST00000527688.5:c.955A>G ENSP00000433935.1:p.Thr319Ala
ENST00000529546.5:c.841A>G ENSP00000434919.1:p.Thr281Ala
ENST00000529751.1:c.94A>G ENSP00000432273.1:p.Thr32Ala