Canonical Allele Identifier: CA142303336

Gene: BCKDHB

Linked Data

• dbSNP Id: rs942089588
• gnomAD v3: 6-80343862-C-T
• gnomAD v4: 6-80343862-C-T
• MyVariant Identifiers: chr6:g.81053579C>T (hg19) ; chr6:g.80343862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343862C>T , CM000668.2:g.80343862C>T	GRCh38
NC_000006.11:g.81053579C>T , CM000668.1:g.81053579C>T	GRCh37
NC_000006.10:g.81110298C>T	NCBI36
NG_009775.1:g.242236C>T
NG_009775.2:g.242236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*58C>T MANE Select	ENSP00000318351.5:n.*58C>T
ENST00000320393.8:c.*58C>T	ENSP00000318351.5:n.*58C>T
ENST00000356489.9:c.*8+50C>T	ENSP00000348880.5:n.*8+50C>T
ENST00000491328.1:n.242+50C>T
NM_000056.3:c.*8+50C>T	NP_000047.1:n.*8+50C>T
NM_183050.2:c.*58C>T	NP_898871.1:n.*58C>T
NM_000056.4:c.*8+50C>T	NP_000047.1:n.*8+50C>T
NM_001318975.1:c.*58C>T	NP_001305904.1:n.*58C>T
NM_183050.3:c.*58C>T	NP_898871.1:n.*58C>T
NR_134945.1:n.1415C>T
XM_011536024.3:c.*243C>T	XP_011534326.1:n.*243C>T
XR_001743546.2:n.1068+70641C>T
XR_001743547.2:n.1068+70641C>T
XR_001743548.2:n.1068+70641C>T
XR_001743549.2:n.1068+70641C>T
XR_002956292.1:n.1068+70641C>T
NM_183050.4:c.*58C>T MANE Select	NP_898871.1:n.*58C>T
NR_134945.2:n.1354C>T
NM_000056.5:c.*8+50C>T	NP_000047.1:n.*8+50C>T