Canonical Allele Identifier: CA2830540158

Gene: BOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173609090T>A , CM000667.2:g.173609090T>A	GRCh38
NC_000005.9:g.173036093T>A , CM000667.1:g.173036093T>A	GRCh37
NC_000005.8:g.172968699T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311086.9:c.*1+148A>T MANE Select	ENSP00000309644.4:n.*1+148A>T
ENST00000285908.5:c.363-798A>T	ENSP00000285908.5:n.363-798A>T
ENST00000311086.8:c.*1+148A>T	ENSP00000309644.4:n.*1+148A>T
ENST00000477985.1:c.356+148A>T
ENST00000480951.1:c.238-798A>T	ENSP00000420337.1:n.238-798A>T
ENST00000518658.1:n.503+148A>T
NM_001159651.1:c.363-798A>T	NP_001153123.1:n.363-798A>T
NM_138369.2:c.*1+148A>T	NP_612378.1:n.*1+148A>T
XM_017010017.2:c.505-798A>T	XP_016865506.1:n.505-798A>T
XR_001742334.2:n.1070+148A>T
XR_941120.3:n.875+148A>T
NM_001159651.3:c.363-798A>T	NP_001153123.1:n.363-798A>T
NM_138369.3:c.*1+148A>T MANE Select	NP_612378.1:n.*1+148A>T
NR_164700.2:n.866+148A>T
NR_164701.2:n.648+148A>T
NR_164702.2:n.777+148A>T
NR_164703.2:n.870+148A>T