Canonical Allele Identifier: CA365021597

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343774T>A , CM000668.2:g.80343774T>A	GRCh38
NC_000006.11:g.81053491T>A , CM000668.1:g.81053491T>A	GRCh37
NC_000006.10:g.81110210T>A	NCBI36
NG_009775.1:g.242148T>A
NG_009775.2:g.242148T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_183050.4:c.1149T>A MANE Select	NP_898871.1:p.Tyr383Ter
ENST00000320393.9:c.1149T>A MANE Select	ENSP00000318351.5:p.Tyr383Ter
NM_000056.3:c.1149T>A	NP_000047.1:p.Tyr383Ter
NM_000056.4:c.1149T>A	NP_000047.1:p.Tyr383Ter
NM_000056.5:c.1149T>A	NP_000047.1:p.Tyr383Ter
NM_001318975.1:c.939T>A	NP_001305904.1:p.Tyr313Ter
NM_183050.2:c.1149T>A	NP_898871.1:p.Tyr383Ter
NM_183050.3:c.1149T>A	NP_898871.1:p.Tyr383Ter
NR_134945.1:n.1327T>A
NR_134945.2:n.1266T>A
ENST00000320393.8:c.1149T>A	ENSP00000318351.5:p.Tyr383Ter
ENST00000356489.9:c.1149T>A	ENSP00000348880.5:p.Tyr383Ter
ENST00000491328.1:n.204T>A
XM_006715542.2:c.939T>A	XP_006715605.1:p.Tyr313Ter
XM_011536024.1:c.*155T>A	XP_011534326.1:n.*155T>A
XM_011536024.3:c.*155T>A	XP_011534326.1:n.*155T>A
XM_011536026.1:c.939T>A	XP_011534328.1:p.Tyr313Ter
XR_001743546.2:n.1068+70553T>A
XR_001743547.2:n.1068+70553T>A
XR_001743548.2:n.1068+70553T>A
XR_001743549.2:n.1068+70553T>A
XR_002956292.1:n.1068+70553T>A