Canonical Allele Identifier: CA133960749
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7886672A>C
GRCh37 chr6:g.7886905A>C
gnomAD v2:
6:7886905 A / C
gnomAD v3:
6:7886672 A / C
gnomAD v4:
chr6-7886672-A-C
Joint Max Group AF 0.00097434 (SAS)
Genomes Max Group AF 0.00097434 (SAS)
dbSNP:
11962800
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7886672A>C , CM000668.2:g.7886672A>C GRCh38
NC_000006.11:g.7886905A>C , CM000668.1:g.7886905A>C GRCh37
NC_000006.10:g.7831904A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.964-629T>G (TXNDC5) MANE Select ENSP00000369081.4:n.964-629T>G
ENST00000379757.8:c.964-629T>G (TXNDC5) ENSP00000369081.4:n.964-629T>G
ENST00000439343.2:c.1073-629T>G (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1073-629T>G
ENST00000460138.5:n.742-629T>G (TXNDC5)
ENST00000473453.2:c.640-629T>G (TXNDC5) ENSP00000420784.1:n.640-629T>G
ENST00000475802.1:n.258-629T>G (TXNDC5)
NM_001145549.2:c.640-629T>G (TXNDC5) NP_001139021.1:n.640-629T>G
NM_030810.3:c.964-629T>G (TXNDC5) NP_110437.2:n.964-629T>G
NR_037616.1:n.1123-629T>G (BLOC1S5-TXNDC5)
NM_001145549.3:c.640-629T>G (TXNDC5) NP_001139021.1:n.640-629T>G
NM_030810.4:c.964-629T>G (TXNDC5) NP_110437.2:n.964-629T>G
NM_030810.5:c.964-629T>G (TXNDC5) MANE Select NP_110437.2:n.964-629T>G
NM_001145549.4:c.640-629T>G (TXNDC5) NP_001139021.1:n.640-629T>G
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