Canonical Allele Identifier: CA2710928138
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Linked Data

dbSNP Id: rs2113316255
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7884926T>C , CM000668.2:g.7884926T>C GRCh38
NC_000006.11:g.7885159T>C , CM000668.1:g.7885159T>C GRCh37
NC_000006.10:g.7830158T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.1047-438A>G (TXNDC5) MANE Select ENSP00000369081.4:n.1047-438A>G
ENST00000379757.8:c.1047-438A>G (TXNDC5) ENSP00000369081.4:n.1047-438A>G
ENST00000439343.2:c.1156-438A>G (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1156-438A>G
ENST00000460138.5:n.825-438A>G (TXNDC5)
ENST00000473453.2:c.723-438A>G (TXNDC5) ENSP00000420784.1:n.723-438A>G
ENST00000475802.1:n.341-438A>G (TXNDC5)
NM_001145549.2:c.723-438A>G (TXNDC5) NP_001139021.1:n.723-438A>G
NM_030810.3:c.1047-438A>G (TXNDC5) NP_110437.2:n.1047-438A>G
NR_037616.1:n.1206-438A>G (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-438A>G (TXNDC5) NP_001139021.1:n.723-438A>G
NM_030810.4:c.1047-438A>G (TXNDC5) NP_110437.2:n.1047-438A>G
NM_030810.5:c.1047-438A>G (TXNDC5) MANE Select NP_110437.2:n.1047-438A>G
NM_001145549.4:c.723-438A>G (TXNDC5) NP_001139021.1:n.723-438A>G
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