Canonical Allele Identifier: CA1608777468
Community Standard Title: NM_030810.5(TXNDC5):c.*304G=
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7882840C= , CM000668.2:g.7882840C= GRCh38
NC_000006.11:g.7883073C= , CM000668.1:g.7883073C= GRCh37
NC_000006.10:g.7828072C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_030810.5:c.*304G= (TXNDC5) MANE Select NP_110437.2:n.*304G=
ENST00000379757.9:c.*304G= (TXNDC5) MANE Select ENSP00000369081.4:n.*304G=
NM_001145549.2:c.*304G= (TXNDC5) NP_001139021.1:n.*304G=
NM_001145549.3:c.*304G= (TXNDC5) NP_001139021.1:n.*304G=
NM_001145549.4:c.*304G= (TXNDC5) NP_001139021.1:n.*304G=
NM_030810.3:c.*304G= (TXNDC5) NP_110437.2:n.*304G=
NM_030810.4:c.*304G= (TXNDC5) NP_110437.2:n.*304G=
NR_037616.1:n.1762G= (BLOC1S5-TXNDC5)
ENST00000379757.8:c.*304G= (TXNDC5) ENSP00000369081.4:n.*304G=
ENST00000439343.2:c.1712G= (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1712G=
ENST00000460138.5:n.1381G= (TXNDC5)