Canonical Allele Identifier: CA134545015

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs758950048
• MyVariant Identifiers: chr6:g.7882042A>G (hg19) ; chr6:g.7881809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881809A>G , CM000668.2:g.7881809A>G	GRCh38
NC_000006.11:g.7882042A>G , CM000668.1:g.7882042A>G	GRCh37
NC_000006.10:g.7827041A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379757.9:c.*1335T>C (TXNDC5) MANE Select	ENSP00000369081.4:n.*1335T>C
ENST00000379757.8:c.*1335T>C (TXNDC5)	ENSP00000369081.4:n.*1335T>C
ENST00000439343.2:c.2743T>C (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2743T>C
ENST00000460138.5:n.2412T>C (TXNDC5)
NM_001145549.2:c.*1335T>C (TXNDC5)	NP_001139021.1:n.*1335T>C
NM_030810.3:c.*1335T>C (TXNDC5)	NP_110437.2:n.*1335T>C
NR_037616.1:n.2793T>C (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1335T>C (TXNDC5)	NP_001139021.1:n.*1335T>C
NM_030810.4:c.*1335T>C (TXNDC5)	NP_110437.2:n.*1335T>C
NM_030810.5:c.*1335T>C (TXNDC5) MANE Select	NP_110437.2:n.*1335T>C
NM_001145549.4:c.*1335T>C (TXNDC5)	NP_001139021.1:n.*1335T>C