Canonical Allele Identifier: CA1608788549
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.519+934T>G (TXNDC5) MANE Select ENSP00000369081.4:n.519+934T>G
ENST00000379757.8:c.519+934T>G (TXNDC5) ENSP00000369081.4:n.519+934T>G
ENST00000439343.2:c.628+934T>G (BLOC1S5-TXNDC5) ENSP00000454697.1:n.628+934T>G
ENST00000469459.1:n.667+934T>G (TXNDC5)
ENST00000473453.2:c.195+934T>G (TXNDC5) ENSP00000420784.1:n.195+934T>G
NM_001145549.2:c.195+934T>G (TXNDC5) NP_001139021.1:n.195+934T>G
NM_030810.3:c.519+934T>G (TXNDC5) NP_110437.2:n.519+934T>G
NR_037616.1:n.678+934T>G (BLOC1S5-TXNDC5)
NM_001145549.3:c.195+934T>G (TXNDC5) NP_001139021.1:n.195+934T>G
NM_030810.4:c.519+934T>G (TXNDC5) NP_110437.2:n.519+934T>G
NM_030810.5:c.519+934T>G (TXNDC5) MANE Select NP_110437.2:n.519+934T>G
NM_001145549.4:c.195+934T>G (TXNDC5) NP_001139021.1:n.195+934T>G