Canonical Allele Identifier: CA12287897
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7898642A>G
GRCh37 chr6:g.7898875A>G
gnomAD v2:
6:7898875 A / G
gnomAD v3:
6:7898642 A / G
gnomAD v4:
chr6-7898642-A-G
Joint Max Group AF 0.77674497 (AFR)
Genomes Max Group AF 0.77674497 (AFR)
dbSNP:
369086
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7898642A>G , CM000668.2:g.7898642A>G GRCh38
NC_000006.11:g.7898875A>G , CM000668.1:g.7898875A>G GRCh37
NC_000006.10:g.7843874A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.519+934T>C (TXNDC5) MANE Select ENSP00000369081.4:n.519+934T>C
ENST00000379757.8:c.519+934T>C (TXNDC5) ENSP00000369081.4:n.519+934T>C
ENST00000439343.2:c.628+934T>C (BLOC1S5-TXNDC5) ENSP00000454697.1:n.628+934T>C
ENST00000469459.1:n.667+934T>C (TXNDC5)
ENST00000473453.2:c.195+934T>C (TXNDC5) ENSP00000420784.1:n.195+934T>C
NM_001145549.2:c.195+934T>C (TXNDC5) NP_001139021.1:n.195+934T>C
NM_030810.3:c.519+934T>C (TXNDC5) NP_110437.2:n.519+934T>C
NR_037616.1:n.678+934T>C (BLOC1S5-TXNDC5)
NM_001145549.3:c.195+934T>C (TXNDC5) NP_001139021.1:n.195+934T>C
NM_030810.4:c.519+934T>C (TXNDC5) NP_110437.2:n.519+934T>C
NM_030810.5:c.519+934T>C (TXNDC5) MANE Select NP_110437.2:n.519+934T>C
NM_001145549.4:c.195+934T>C (TXNDC5) NP_001139021.1:n.195+934T>C
Search 100 bp 5'
Search 100 bp 3'