Canonical Allele Identifier: CA1608801566
Gene: BLOC1S5-TXNDC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7911469T= , CM000668.2:g.7911469T= GRCh38
NC_000006.11:g.7911702T= , CM000668.1:g.7911702T= GRCh37
NC_000006.10:g.7856701T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000439343.2:c.373-6746A= ENSP00000454697.1:n.373-6746A=
NR_037616.1:n.423-6746A=