Canonical Allele Identifier: CA1608780286
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Linked Data

dbSNP Id: rs89715
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7887935C>A , CM000668.2:g.7887935C>A GRCh38
NC_000006.11:g.7888168C>A , CM000668.1:g.7888168C>A GRCh37
NC_000006.10:g.7833167C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000379757.9:c.963+770G>T (TXNDC5) MANE Select ENSP00000369081.4:n.963+770G>T
ENST00000379757.8:c.963+770G>T (TXNDC5) ENSP00000369081.4:n.963+770G>T
ENST00000439343.2:c.1072+770G>T (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1072+770G>T
ENST00000460138.5:n.741+770G>T (TXNDC5)
ENST00000473453.2:c.639+770G>T (TXNDC5) ENSP00000420784.1:n.639+770G>T
ENST00000475802.1:n.257+770G>T (TXNDC5)
NM_001145549.2:c.639+770G>T (TXNDC5) NP_001139021.1:n.639+770G>T
NM_030810.3:c.963+770G>T (TXNDC5) NP_110437.2:n.963+770G>T
NR_037616.1:n.1122+770G>T (BLOC1S5-TXNDC5)
NM_001145549.3:c.639+770G>T (TXNDC5) NP_001139021.1:n.639+770G>T
NM_030810.4:c.963+770G>T (TXNDC5) NP_110437.2:n.963+770G>T
NM_030810.5:c.963+770G>T (TXNDC5) MANE Select NP_110437.2:n.963+770G>T
NM_001145549.4:c.639+770G>T (TXNDC5) NP_001139021.1:n.639+770G>T
Search 100 bp 5'
Search 100 bp 3'