Canonical Allele Identifier: CA2677219858

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• gnomAD v4: 6-7881742-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881742A>G , CM000668.2:g.7881742A>G	GRCh38
NC_000006.11:g.7881975A>G , CM000668.1:g.7881975A>G	GRCh37
NC_000006.10:g.7826974A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379757.9:c.*1402T>C (TXNDC5) MANE Select	ENSP00000369081.4:n.*1402T>C
ENST00000379757.8:c.*1402T>C (TXNDC5)	ENSP00000369081.4:n.*1402T>C
ENST00000439343.2:c.2810T>C (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2810T>C
ENST00000460138.5:n.2479T>C (TXNDC5)
NM_001145549.2:c.*1402T>C (TXNDC5)	NP_001139021.1:n.*1402T>C
NM_030810.3:c.*1402T>C (TXNDC5)	NP_110437.2:n.*1402T>C
NR_037616.1:n.2860T>C (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1402T>C (TXNDC5)	NP_001139021.1:n.*1402T>C
NM_030810.4:c.*1402T>C (TXNDC5)	NP_110437.2:n.*1402T>C
NM_030810.5:c.*1402T>C (TXNDC5) MANE Select	NP_110437.2:n.*1402T>C
NM_001145549.4:c.*1402T>C (TXNDC5)	NP_001139021.1:n.*1402T>C