Canonical Allele Identifier: CA2677219878

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• gnomAD v4: 6-7881805-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881805C>A , CM000668.2:g.7881805C>A	GRCh38
NC_000006.11:g.7882038C>A , CM000668.1:g.7882038C>A	GRCh37
NC_000006.10:g.7827037C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379757.9:c.*1339G>T (TXNDC5) MANE Select	ENSP00000369081.4:n.*1339G>T
ENST00000379757.8:c.*1339G>T (TXNDC5)	ENSP00000369081.4:n.*1339G>T
ENST00000439343.2:c.2747G>T (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2747G>T
ENST00000460138.5:n.2416G>T (TXNDC5)
NM_001145549.2:c.*1339G>T (TXNDC5)	NP_001139021.1:n.*1339G>T
NM_030810.3:c.*1339G>T (TXNDC5)	NP_110437.2:n.*1339G>T
NR_037616.1:n.2797G>T (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1339G>T (TXNDC5)	NP_001139021.1:n.*1339G>T
NM_030810.4:c.*1339G>T (TXNDC5)	NP_110437.2:n.*1339G>T
NM_030810.5:c.*1339G>T (TXNDC5) MANE Select	NP_110437.2:n.*1339G>T
NM_001145549.4:c.*1339G>T (TXNDC5)	NP_001139021.1:n.*1339G>T