Canonical Allele Identifier: CA312368

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171289T>A , CM000668.2:g.80171289T>A	GRCh38
NC_000006.11:g.80881006T>A , CM000668.1:g.80881006T>A	GRCh37
NC_000006.10:g.80937725T>A	NCBI36
NG_009775.1:g.69663T>A
NG_009775.2:g.69663T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_183050.4:c.641T>A MANE Select	NP_898871.1:p.Ile214Lys
ENST00000320393.9:c.641T>A MANE Select	ENSP00000318351.5:p.Ile214Lys
NM_000056.3:c.641T>A	NP_000047.1:p.Ile214Lys
NM_000056.4:c.641T>A	NP_000047.1:p.Ile214Lys
NM_000056.5:c.641T>A	NP_000047.1:p.Ile214Lys
NM_001318975.1:c.431T>A	NP_001305904.1:p.Ile144Lys
NM_183050.2:c.641T>A	NP_898871.1:p.Ile214Lys
NM_183050.3:c.641T>A	NP_898871.1:p.Ile214Lys
NR_134945.1:n.819T>A
NR_134945.2:n.758T>A
ENST00000320393.8:c.641T>A	ENSP00000318351.5:p.Ile214Lys
ENST00000356489.9:c.641T>A	ENSP00000348880.5:p.Ile214Lys
XM_005248756.3:c.641T>A	XP_005248813.1:p.Ile214Lys
XM_005248756.5:c.641T>A	XP_005248813.1:p.Ile214Lys
XM_006715542.2:c.431T>A	XP_006715605.1:p.Ile144Lys
XM_011536023.1:c.641T>A	XP_011534325.1:p.Ile214Lys
XM_011536023.3:c.641T>A	XP_011534325.1:p.Ile214Lys
XM_011536024.1:c.641T>A	XP_011534326.1:p.Ile214Lys
XM_011536024.3:c.641T>A	XP_011534326.1:p.Ile214Lys
XM_011536025.1:c.641T>A	XP_011534327.1:p.Ile214Lys
XM_011536025.3:c.641T>A	XP_011534327.1:p.Ile214Lys
XM_011536026.1:c.431T>A	XP_011534328.1:p.Ile144Lys
XR_001743546.2:n.671T>A
XR_001743547.2:n.671T>A
XR_001743548.2:n.671T>A
XR_001743549.2:n.671T>A
XR_002956292.1:n.671T>A