Canonical Allele Identifier: CA2236993400
Community Standard Title: NM_017429.3(BCO1):c.844-5T=
Gene: BCO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81270154T= , CM000678.2:g.81270154T= GRCh38
NC_000016.9:g.81303759T= , CM000678.1:g.81303759T= GRCh37
NC_000016.8:g.79861260T= NCBI36
NG_012171.1:g.36464T=

Transcript Alleles

HGVS Amino-acid Change
NM_017429.3:c.844-5T= MANE Select NP_059125.2:n.844-5T=
ENST00000258168.7:c.844-5T= MANE Select ENSP00000258168.2:n.844-5T=
NM_017429.2:c.844-5T= NP_059125.2:n.844-5T=
ENST00000258168.6:c.844-5T= ENSP00000258168.2:n.844-5T=
ENST00000563804.5:c.*468-5T= ENSP00000457910.1:n.*468-5T=
XM_011523109.1:c.844-5T= XP_011521411.1:n.844-5T=
XM_011523109.2:c.844-5T= XP_011521411.1:n.844-5T=
XM_011523110.1:c.295-5T= XP_011521412.1:n.295-5T=
XM_017023286.2:c.844-5T= XP_016878775.1:n.844-5T=
XM_017023287.2:c.844-5T= XP_016878776.1:n.844-5T=
XM_017023288.2:c.844-5T= XP_016878777.1:n.844-5T=
XM_017023289.1:c.67-5T= XP_016878778.1:n.67-5T=
XR_002957813.1:n.1171-5T=