Canonical Allele Identifier: CA14318734
Community Standard Title: NM_017429.3(BCO1):c.193+226A>G
Gene: BCO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81245829A>G , CM000678.2:g.81245829A>G GRCh38
NC_000016.9:g.81279434A>G , CM000678.1:g.81279434A>G GRCh37
NC_000016.8:g.79836935A>G NCBI36
NG_012171.1:g.12139A>G

Transcript Alleles

HGVS Amino-acid Change
NM_017429.3:c.193+226A>G MANE Select NP_059125.2:n.193+226A>G
ENST00000258168.7:c.193+226A>G MANE Select ENSP00000258168.2:n.193+226A>G
NM_017429.2:c.193+226A>G NP_059125.2:n.193+226A>G
ENST00000258168.6:c.193+226A>G ENSP00000258168.2:n.193+226A>G
ENST00000563804.5:c.193+226A>G ENSP00000457910.1:n.193+226A>G
ENST00000564552.1:c.193+226A>G ENSP00000455219.1:n.193+226A>G
XM_011523109.1:c.193+226A>G XP_011521411.1:n.193+226A>G
XM_011523109.2:c.193+226A>G XP_011521411.1:n.193+226A>G
XM_017023286.2:c.193+226A>G XP_016878775.1:n.193+226A>G
XM_017023287.2:c.193+226A>G XP_016878776.1:n.193+226A>G
XM_017023288.2:c.193+226A>G XP_016878777.1:n.193+226A>G
XR_002957813.1:n.654+226A>G