Canonical Allele Identifier: CA565352965

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs1288119325
• gnomAD v2: 6-7882041-C-G
• gnomAD v3: 6-7881808-C-G
• gnomAD v4: 6-7881808-C-G
• MyVariant Identifiers: chr6:g.7882041C>G (hg19) ; chr6:g.7881808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881808C>G , CM000668.2:g.7881808C>G	GRCh38
NC_000006.11:g.7882041C>G , CM000668.1:g.7882041C>G	GRCh37
NC_000006.10:g.7827040C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379757.9:c.*1336G>C (TXNDC5) MANE Select	ENSP00000369081.4:n.*1336G>C
ENST00000379757.8:c.*1336G>C (TXNDC5)	ENSP00000369081.4:n.*1336G>C
ENST00000439343.2:c.2744G>C (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2744G>C
ENST00000460138.5:n.2413G>C (TXNDC5)
NM_001145549.2:c.*1336G>C (TXNDC5)	NP_001139021.1:n.*1336G>C
NM_030810.3:c.*1336G>C (TXNDC5)	NP_110437.2:n.*1336G>C
NR_037616.1:n.2794G>C (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1336G>C (TXNDC5)	NP_001139021.1:n.*1336G>C
NM_030810.4:c.*1336G>C (TXNDC5)	NP_110437.2:n.*1336G>C
NM_030810.5:c.*1336G>C (TXNDC5) MANE Select	NP_110437.2:n.*1336G>C
NM_001145549.4:c.*1336G>C (TXNDC5)	NP_001139021.1:n.*1336G>C