Canonical Allele Identifier: CA1641009836

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343790A= , CM000668.2:g.80343790A=	GRCh38
NC_000006.11:g.81053507A= , CM000668.1:g.81053507A=	GRCh37
NC_000006.10:g.81110226A=	NCBI36
NG_009775.1:g.242164A=
NG_009775.2:g.242164A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1165A= MANE Select	ENSP00000318351.5:p.Met389=
ENST00000320393.8:c.1165A=	ENSP00000318351.5:p.Met389=
ENST00000356489.9:c.1165A=	ENSP00000348880.5:p.Met389=
ENST00000491328.1:n.220A=
NM_000056.3:c.1165A=	NP_000047.1:p.Met389=
NM_183050.2:c.1165A=	NP_898871.1:p.Met389=
XM_006715542.2:c.955A=	XP_006715605.1:p.Met319=
XM_011536024.1:c.*171A=	XP_011534326.1:n.*171A=
XM_011536026.1:c.955A=	XP_011534328.1:p.Met319=
NM_000056.4:c.1165A=	NP_000047.1:p.Met389=
NM_001318975.1:c.955A=	NP_001305904.1:p.Met319=
NM_183050.3:c.1165A=	NP_898871.1:p.Met389=
NR_134945.1:n.1343A=
XM_011536024.3:c.*171A=	XP_011534326.1:n.*171A=
XR_001743546.2:n.1068+70569A=
XR_001743547.2:n.1068+70569A=
XR_001743548.2:n.1068+70569A=
XR_001743549.2:n.1068+70569A=
XR_002956292.1:n.1068+70569A=
NM_183050.4:c.1165A= MANE Select	NP_898871.1:p.Met389=
NR_134945.2:n.1282A=
NM_000056.5:c.1165A=	NP_000047.1:p.Met389=