Canonical Allele Identifier: CA12179873
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7890927G>T
GRCh37 chr6:g.7891160G>T
gnomAD v2:
6:7891160 G / T
gnomAD v3:
6:7890927 G / T
gnomAD v4:
chr6-7890927-G-T
Joint Max Group AF 0.62241975 (EAS)
Genomes Max Group AF 0.62241975 (EAS)
dbSNP:
13873
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7890927G>T , CM000668.2:g.7890927G>T GRCh38
NC_000006.11:g.7891160G>T , CM000668.1:g.7891160G>T GRCh37
NC_000006.10:g.7836159G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.732+694C>A (TXNDC5) MANE Select ENSP00000369081.4:n.732+694C>A
ENST00000379757.8:c.732+694C>A (TXNDC5) ENSP00000369081.4:n.732+694C>A
ENST00000439343.2:c.841+694C>A (BLOC1S5-TXNDC5) ENSP00000454697.1:n.841+694C>A
ENST00000473453.2:c.408+694C>A (TXNDC5) ENSP00000420784.1:n.408+694C>A
NM_001145549.2:c.408+694C>A (TXNDC5) NP_001139021.1:n.408+694C>A
NM_030810.3:c.732+694C>A (TXNDC5) NP_110437.2:n.732+694C>A
NR_037616.1:n.891+694C>A (BLOC1S5-TXNDC5)
NM_001145549.3:c.408+694C>A (TXNDC5) NP_001139021.1:n.408+694C>A
NM_030810.4:c.732+694C>A (TXNDC5) NP_110437.2:n.732+694C>A
NM_030810.5:c.732+694C>A (TXNDC5) MANE Select NP_110437.2:n.732+694C>A
NM_001145549.4:c.408+694C>A (TXNDC5) NP_001139021.1:n.408+694C>A
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