Canonical Allele Identifier: CA365021652

Gene: BCKDHB

Linked Data

• MyVariant Identifiers: chr6:g.81053517A>T (hg19) ; chr6:g.80343800A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343800A>T , CM000668.2:g.80343800A>T	GRCh38
NC_000006.11:g.81053517A>T , CM000668.1:g.81053517A>T	GRCh37
NC_000006.10:g.81110236A>T	NCBI36
NG_009775.1:g.242174A>T
NG_009775.2:g.242174A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1175A>T MANE Select	ENSP00000318351.5:p.Tyr392Phe
ENST00000320393.8:c.1175A>T	ENSP00000318351.5:p.Tyr392Phe
ENST00000356489.9:c.1175A>T	ENSP00000348880.5:p.Tyr392Phe
ENST00000491328.1:n.230A>T
NM_000056.3:c.1175A>T	NP_000047.1:p.Tyr392Phe
NM_183050.2:c.1175A>T	NP_898871.1:p.Tyr392Phe
XM_006715542.2:c.965A>T	XP_006715605.1:p.Tyr322Phe
XM_011536024.1:c.*181A>T	XP_011534326.1:n.*181A>T
XM_011536026.1:c.965A>T	XP_011534328.1:p.Tyr322Phe
NM_000056.4:c.1175A>T	NP_000047.1:p.Tyr392Phe
NM_001318975.1:c.965A>T	NP_001305904.1:p.Tyr322Phe
NM_183050.3:c.1175A>T	NP_898871.1:p.Tyr392Phe
NR_134945.1:n.1353A>T
XM_011536024.3:c.*181A>T	XP_011534326.1:n.*181A>T
XR_001743546.2:n.1068+70579A>T
XR_001743547.2:n.1068+70579A>T
XR_001743548.2:n.1068+70579A>T
XR_001743549.2:n.1068+70579A>T
XR_002956292.1:n.1068+70579A>T
NM_183050.4:c.1175A>T MANE Select	NP_898871.1:p.Tyr392Phe
NR_134945.2:n.1292A>T
NM_000056.5:c.1175A>T	NP_000047.1:p.Tyr392Phe