Canonical Allele Identifier: CA134545013

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs368795961
• MyVariant Identifiers: chr6:g.7882031T>G (hg19) ; chr6:g.7881798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881798T>G , CM000668.2:g.7881798T>G	GRCh38
NC_000006.11:g.7882031T>G , CM000668.1:g.7882031T>G	GRCh37
NC_000006.10:g.7827030T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379757.9:c.*1346A>C (TXNDC5) MANE Select	ENSP00000369081.4:n.*1346A>C
ENST00000379757.8:c.*1346A>C (TXNDC5)	ENSP00000369081.4:n.*1346A>C
ENST00000439343.2:c.2754A>C (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2754A>C
ENST00000460138.5:n.2423A>C (TXNDC5)
NM_001145549.2:c.*1346A>C (TXNDC5)	NP_001139021.1:n.*1346A>C
NM_030810.3:c.*1346A>C (TXNDC5)	NP_110437.2:n.*1346A>C
NR_037616.1:n.2804A>C (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1346A>C (TXNDC5)	NP_001139021.1:n.*1346A>C
NM_030810.4:c.*1346A>C (TXNDC5)	NP_110437.2:n.*1346A>C
NM_030810.5:c.*1346A>C (TXNDC5) MANE Select	NP_110437.2:n.*1346A>C
NM_001145549.4:c.*1346A>C (TXNDC5)	NP_001139021.1:n.*1346A>C