Canonical Allele Identifier: CA568407217

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1205597444
• gnomAD v2: 6-81053524-A-T
• gnomAD v4: 6-80343807-A-T
• MyVariant Identifiers: chr6:g.81053524A>T (hg19) ; chr6:g.80343807A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343807A>T , CM000668.2:g.80343807A>T	GRCh38
NC_000006.11:g.81053524A>T , CM000668.1:g.81053524A>T	GRCh37
NC_000006.10:g.81110243A>T	NCBI36
NG_009775.1:g.242181A>T
NG_009775.2:g.242181A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*3A>T MANE Select	ENSP00000318351.5:n.*3A>T
ENST00000320393.8:c.*3A>T	ENSP00000318351.5:n.*3A>T
ENST00000356489.9:c.*3A>T	ENSP00000348880.5:n.*3A>T
ENST00000491328.1:n.237A>T
NM_000056.3:c.*3A>T	NP_000047.1:n.*3A>T
NM_183050.2:c.*3A>T	NP_898871.1:n.*3A>T
XM_006715542.2:c.*3A>T	XP_006715605.1:n.*3A>T
XM_011536024.1:c.*188A>T	XP_011534326.1:n.*188A>T
XM_011536026.1:c.*3A>T	XP_011534328.1:n.*3A>T
NM_000056.4:c.*3A>T	NP_000047.1:n.*3A>T
NM_001318975.1:c.*3A>T	NP_001305904.1:n.*3A>T
NM_183050.3:c.*3A>T	NP_898871.1:n.*3A>T
NR_134945.1:n.1360A>T
XM_011536024.3:c.*188A>T	XP_011534326.1:n.*188A>T
XR_001743546.2:n.1068+70586A>T
XR_001743547.2:n.1068+70586A>T
XR_001743548.2:n.1068+70586A>T
XR_001743549.2:n.1068+70586A>T
XR_002956292.1:n.1068+70586A>T
NM_183050.4:c.*3A>T MANE Select	NP_898871.1:n.*3A>T
NR_134945.2:n.1299A>T
NM_000056.5:c.*3A>T	NP_000047.1:n.*3A>T