Canonical Allele Identifier: CA364660334

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80203210A>T , CM000668.2:g.80203210A>T	GRCh38
NC_000006.11:g.80912927A>T , CM000668.1:g.80912927A>T	GRCh37
NC_000006.10:g.80969646A>T	NCBI36
NG_009775.1:g.101584A>T
NG_009775.2:g.101584A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_183050.4:c.949A>T MANE Select	NP_898871.1:p.Lys317Ter
ENST00000320393.9:c.949A>T MANE Select	ENSP00000318351.5:p.Lys317Ter
NM_000056.3:c.949A>T	NP_000047.1:p.Lys317Ter
NM_000056.4:c.949A>T	NP_000047.1:p.Lys317Ter
NM_000056.5:c.949A>T	NP_000047.1:p.Lys317Ter
NM_001318975.1:c.739A>T	NP_001305904.1:p.Lys247Ter
NM_183050.2:c.949A>T	NP_898871.1:p.Lys317Ter
NM_183050.3:c.949A>T	NP_898871.1:p.Lys317Ter
NR_134945.1:n.1127A>T
NR_134945.2:n.1066A>T
ENST00000320393.8:c.949A>T	ENSP00000318351.5:p.Lys317Ter
ENST00000356489.9:c.949A>T	ENSP00000348880.5:p.Lys317Ter
ENST00000468520.1:n.109A>T
XM_005248756.3:c.949A>T	XP_005248813.1:p.Lys317Ter
XM_005248756.5:c.949A>T	XP_005248813.1:p.Lys317Ter
XM_006715542.2:c.739A>T	XP_006715605.1:p.Lys247Ter
XM_011536023.1:c.949A>T	XP_011534325.1:p.Lys317Ter
XM_011536023.3:c.949A>T	XP_011534325.1:p.Lys317Ter
XM_011536024.1:c.949A>T	XP_011534326.1:p.Lys317Ter
XM_011536024.3:c.949A>T	XP_011534326.1:p.Lys317Ter
XM_011536025.1:c.949A>T	XP_011534327.1:p.Lys317Ter
XM_011536025.3:c.949A>T	XP_011534327.1:p.Lys317Ter
XM_011536026.1:c.739A>T	XP_011534328.1:p.Lys247Ter
XR_001743546.2:n.979A>T
XR_001743547.2:n.979A>T
XR_001743548.2:n.979A>T
XR_001743549.2:n.979A>T
XR_002956292.1:n.979A>T