Canonical Allele Identifier: CA3629003
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI
ClinVar RCV:
RCV000961047
ClinVar Variation:
780037
COSMIC:
COSM1236182
dbSNP:
111331197
gnomAD v2:
6:7883468 C / T
gnomAD v3:
6:7883235 C / T
gnomAD v4:
chr6-7883235-C-T
Joint Max Group AF 0.01058624 (NFE)
Genomes Max Group AF 0.01021618 (NFE)
Exomes Max Group AF 0.01057399 (NFE)
MyVariant.info:
GRCh38 chr6:g.7883235C>T
GRCh37 chr6:g.7883468C>T
Revel Score:
ENST00000539054 0.197
ENST00000379757 (MANE Select) 0.197
ENST00000473453 0.197
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7883235C>T , CM000668.2:g.7883235C>T GRCh38
NC_000006.11:g.7883468C>T , CM000668.1:g.7883468C>T GRCh37
NC_000006.10:g.7828467C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.1208G>A (TXNDC5) MANE Select ENSP00000369081.4:p.Arg403Gln
ENST00000379757.8:c.1208G>A (TXNDC5) ENSP00000369081.4:p.Arg403Gln
ENST00000439343.2:c.1317G>A (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1317G>A
ENST00000460138.5:n.986G>A (TXNDC5)
ENST00000473453.2:c.884G>A (TXNDC5) ENSP00000420784.1:p.Arg295Gln
ENST00000475802.1:n.502G>A (TXNDC5)
NM_001145549.2:c.884G>A (TXNDC5) NP_001139021.1:p.Arg295Gln
NM_030810.3:c.1208G>A (TXNDC5) NP_110437.2:p.Arg403Gln
NR_037616.1:n.1367G>A (BLOC1S5-TXNDC5)
NM_001145549.3:c.884G>A (TXNDC5) NP_001139021.1:p.Arg295Gln
NM_030810.4:c.1208G>A (TXNDC5) NP_110437.2:p.Arg403Gln
NM_030810.5:c.1208G>A (TXNDC5) MANE Select NP_110437.2:p.Arg403Gln
NM_001145549.4:c.884G>A (TXNDC5) NP_001139021.1:p.Arg295Gln
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