Canonical Allele Identifier: CA828417249

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs1162682915
• gnomAD v3: 6-7884839-A-G
• gnomAD v4: 6-7884839-A-G
• MyVariant Identifiers: chr6:g.7885072A>G (hg19) ; chr6:g.7884839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7884839A>G , CM000668.2:g.7884839A>G	GRCh38
NC_000006.11:g.7885072A>G , CM000668.1:g.7885072A>G	GRCh37
NC_000006.10:g.7830071A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379757.9:c.1047-351T>C (TXNDC5) MANE Select	ENSP00000369081.4:n.1047-351T>C
ENST00000379757.8:c.1047-351T>C (TXNDC5)	ENSP00000369081.4:n.1047-351T>C
ENST00000439343.2:c.1156-351T>C (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.1156-351T>C
ENST00000460138.5:n.825-351T>C (TXNDC5)
ENST00000473453.2:c.723-351T>C (TXNDC5)	ENSP00000420784.1:n.723-351T>C
ENST00000475802.1:n.341-351T>C (TXNDC5)
NM_001145549.2:c.723-351T>C (TXNDC5)	NP_001139021.1:n.723-351T>C
NM_030810.3:c.1047-351T>C (TXNDC5)	NP_110437.2:n.1047-351T>C
NR_037616.1:n.1206-351T>C (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-351T>C (TXNDC5)	NP_001139021.1:n.723-351T>C
NM_030810.4:c.1047-351T>C (TXNDC5)	NP_110437.2:n.1047-351T>C
NM_030810.5:c.1047-351T>C (TXNDC5) MANE Select	NP_110437.2:n.1047-351T>C
NM_001145549.4:c.723-351T>C (TXNDC5)	NP_001139021.1:n.723-351T>C