Canonical Allele Identifier: CA365021519

Gene: BCKDHB

Linked Data

• MyVariant Identifiers: chr6:g.81053459C>T (hg19) ; chr6:g.80343742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343742C>T , CM000668.2:g.80343742C>T	GRCh38
NC_000006.11:g.81053459C>T , CM000668.1:g.81053459C>T	GRCh37
NC_000006.10:g.81110178C>T	NCBI36
NG_009775.1:g.242116C>T
NG_009775.2:g.242116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1117C>T MANE Select	ENSP00000318351.5:p.Pro373Ser
ENST00000320393.8:c.1117C>T	ENSP00000318351.5:p.Pro373Ser
ENST00000356489.9:c.1117C>T	ENSP00000348880.5:p.Pro373Ser
ENST00000491328.1:n.172C>T
NM_000056.3:c.1117C>T	NP_000047.1:p.Pro373Ser
NM_183050.2:c.1117C>T	NP_898871.1:p.Pro373Ser
XM_006715542.2:c.907C>T	XP_006715605.1:p.Pro303Ser
XM_011536024.1:c.*123C>T	XP_011534326.1:n.*123C>T
XM_011536026.1:c.907C>T	XP_011534328.1:p.Pro303Ser
NM_000056.4:c.1117C>T	NP_000047.1:p.Pro373Ser
NM_001318975.1:c.907C>T	NP_001305904.1:p.Pro303Ser
NM_183050.3:c.1117C>T	NP_898871.1:p.Pro373Ser
NR_134945.1:n.1295C>T
XM_011536024.3:c.*123C>T	XP_011534326.1:n.*123C>T
XR_001743546.2:n.1068+70521C>T
XR_001743547.2:n.1068+70521C>T
XR_001743548.2:n.1068+70521C>T
XR_001743549.2:n.1068+70521C>T
XR_002956292.1:n.1068+70521C>T
NM_183050.4:c.1117C>T MANE Select	NP_898871.1:p.Pro373Ser
NR_134945.2:n.1234C>T
NM_000056.5:c.1117C>T	NP_000047.1:p.Pro373Ser