Canonical Allele Identifier: CA224231

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 96561
• ClinVar RCV Id: RCV000082718 ; RCV000673471
• dbSNP Id: rs398124559
• MyVariant Identifiers: chr6:g.81053534G>A (hg19) ; chr6:g.80343817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343817G>A , CM000668.2:g.80343817G>A	GRCh38
NC_000006.11:g.81053534G>A , CM000668.1:g.81053534G>A	GRCh37
NC_000006.10:g.81110253G>A	NCBI36
NG_009775.1:g.242191G>A
NG_009775.2:g.242191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*13G>A MANE Select	ENSP00000318351.5:n.*13G>A
ENST00000320393.8:c.*13G>A	ENSP00000318351.5:n.*13G>A
ENST00000356489.9:c.*8+5G>A	ENSP00000348880.5:n.*8+5G>A
ENST00000491328.1:n.242+5G>A
NM_000056.3:c.*8+5G>A	NP_000047.1:n.*8+5G>A
NM_183050.2:c.*13G>A	NP_898871.1:n.*13G>A
NM_000056.4:c.*8+5G>A	NP_000047.1:n.*8+5G>A
NM_001318975.1:c.*13G>A	NP_001305904.1:n.*13G>A
NM_183050.3:c.*13G>A	NP_898871.1:n.*13G>A
NR_134945.1:n.1370G>A
XM_011536024.3:c.*198G>A	XP_011534326.1:n.*198G>A
XR_001743546.2:n.1068+70596G>A
XR_001743547.2:n.1068+70596G>A
XR_001743548.2:n.1068+70596G>A
XR_001743549.2:n.1068+70596G>A
XR_002956292.1:n.1068+70596G>A
NM_183050.4:c.*13G>A MANE Select	NP_898871.1:n.*13G>A
NR_134945.2:n.1309G>A
NM_000056.5:c.*8+5G>A	NP_000047.1:n.*8+5G>A