Canonical Allele Identifier: CA364658766

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171380C>A , CM000668.2:g.80171380C>A	GRCh38
NC_000006.11:g.80881097C>A , CM000668.1:g.80881097C>A	GRCh37
NC_000006.10:g.80937816C>A	NCBI36
NG_009775.1:g.69754C>A
NG_009775.2:g.69754C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_183050.4:c.732C>A MANE Select	NP_898871.1:p.Tyr244Ter
ENST00000320393.9:c.732C>A MANE Select	ENSP00000318351.5:p.Tyr244Ter
NM_000056.3:c.732C>A	NP_000047.1:p.Tyr244Ter
NM_000056.4:c.732C>A	NP_000047.1:p.Tyr244Ter
NM_000056.5:c.732C>A	NP_000047.1:p.Tyr244Ter
NM_001318975.1:c.522C>A	NP_001305904.1:p.Tyr174Ter
NM_183050.2:c.732C>A	NP_898871.1:p.Tyr244Ter
NM_183050.3:c.732C>A	NP_898871.1:p.Tyr244Ter
NR_134945.1:n.910C>A
NR_134945.2:n.849C>A
ENST00000320393.8:c.732C>A	ENSP00000318351.5:p.Tyr244Ter
ENST00000356489.9:c.732C>A	ENSP00000348880.5:p.Tyr244Ter
XM_005248756.3:c.732C>A	XP_005248813.1:p.Tyr244Ter
XM_005248756.5:c.732C>A	XP_005248813.1:p.Tyr244Ter
XM_006715542.2:c.522C>A	XP_006715605.1:p.Tyr174Ter
XM_011536023.1:c.732C>A	XP_011534325.1:p.Tyr244Ter
XM_011536023.3:c.732C>A	XP_011534325.1:p.Tyr244Ter
XM_011536024.1:c.732C>A	XP_011534326.1:p.Tyr244Ter
XM_011536024.3:c.732C>A	XP_011534326.1:p.Tyr244Ter
XM_011536025.1:c.732C>A	XP_011534327.1:p.Tyr244Ter
XM_011536025.3:c.732C>A	XP_011534327.1:p.Tyr244Ter
XM_011536026.1:c.522C>A	XP_011534328.1:p.Tyr174Ter
XR_001743546.2:n.762C>A
XR_001743547.2:n.762C>A
XR_001743548.2:n.762C>A
XR_001743549.2:n.762C>A
XR_002956292.1:n.762C>A