Canonical Allele Identifier: CA12287893
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1225936

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7884951C>A , CM000668.2:g.7884951C>A GRCh38
NC_000006.11:g.7885184C>A , CM000668.1:g.7885184C>A GRCh37
NC_000006.10:g.7830183C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001145549.2:c.723-463G>T (TXNDC5) VV NP_001139021.1:p.=
NM_030810.3:c.1047-463G>T (TXNDC5) VV NP_110437.2:p.=
NR_037616.1:n.1206-463G>T (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-463G>T (TXNDC5) VV
NM_030810.4:c.1047-463G>T (TXNDC5) VV
ENST00000379757.8:c.1047-463G>T ENSP00000369081.4:p.=
ENST00000439343.2:n.1156-463G>T ENSP00000454697.1:p.=
ENST00000460138.5:n.825-463G>T
ENST00000473453.2:c.723-463G>T ENSP00000420784.1:p.=
ENST00000475802.1:n.341-463G>T