Canonical Allele Identifier: CA565099690
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Linked Data

dbSNP Id: rs1166606658
gnomAD v2: 6-7885108-A-G
MyVariant Identifiers: chr6:g.7885108A>G (hg19) chr6:g.7884875A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7884875A>G , CM000668.2:g.7884875A>G GRCh38
NC_000006.11:g.7885108A>G , CM000668.1:g.7885108A>G GRCh37
NC_000006.10:g.7830107A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000379757.9:c.1047-387T>C (TXNDC5) MANE Select ENSP00000369081.4:n.1047-387T>C
ENST00000379757.8:c.1047-387T>C (TXNDC5) ENSP00000369081.4:n.1047-387T>C
ENST00000439343.2:c.1156-387T>C (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1156-387T>C
ENST00000460138.5:n.825-387T>C (TXNDC5)
ENST00000473453.2:c.723-387T>C (TXNDC5) ENSP00000420784.1:n.723-387T>C
ENST00000475802.1:n.341-387T>C (TXNDC5)
NM_001145549.2:c.723-387T>C (TXNDC5) NP_001139021.1:n.723-387T>C
NM_030810.3:c.1047-387T>C (TXNDC5) NP_110437.2:n.1047-387T>C
NR_037616.1:n.1206-387T>C (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-387T>C (TXNDC5) NP_001139021.1:n.723-387T>C
NM_030810.4:c.1047-387T>C (TXNDC5) NP_110437.2:n.1047-387T>C
NM_030810.5:c.1047-387T>C (TXNDC5) MANE Select NP_110437.2:n.1047-387T>C
NM_001145549.4:c.723-387T>C (TXNDC5) NP_001139021.1:n.723-387T>C
Search 100 bp 5'
Search 100 bp 3'