Canonical Allele Identifier: CA1608776773
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7881730A= , CM000668.2:g.7881730A= GRCh38
NC_000006.11:g.7881963A= , CM000668.1:g.7881963A= GRCh37
NC_000006.10:g.7826962A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000379757.9:c.*1414T= (TXNDC5) MANE Select ENSP00000369081.4:n.*1414T=
ENST00000379757.8:c.*1414T= (TXNDC5) ENSP00000369081.4:n.*1414T=
ENST00000439343.2:c.2822T= (BLOC1S5-TXNDC5) ENSP00000454697.1:n.2822T=
ENST00000460138.5:n.2491T= (TXNDC5)
NM_001145549.2:c.*1414T= (TXNDC5) NP_001139021.1:n.*1414T=
NM_030810.3:c.*1414T= (TXNDC5) NP_110437.2:n.*1414T=
NR_037616.1:n.2872T= (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1414T= (TXNDC5) NP_001139021.1:n.*1414T=
NM_030810.4:c.*1414T= (TXNDC5) NP_110437.2:n.*1414T=
NM_030810.5:c.*1414T= (TXNDC5) MANE Select NP_110437.2:n.*1414T=
NM_001145549.4:c.*1414T= (TXNDC5) NP_001139021.1:n.*1414T=
Search 100 bp 5'
Search 100 bp 3'