Canonical Allele Identifier: CA142303337

Gene: BCKDHB

Linked Data

• dbSNP Id: rs968970621
• gnomAD v4: 6-80343869-C-A
• MyVariant Identifiers: chr6:g.81053586C>A (hg19) ; chr6:g.80343869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343869C>A , CM000668.2:g.80343869C>A	GRCh38
NC_000006.11:g.81053586C>A , CM000668.1:g.81053586C>A	GRCh37
NC_000006.10:g.81110305C>A	NCBI36
NG_009775.1:g.242243C>A
NG_009775.2:g.242243C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*65C>A MANE Select	ENSP00000318351.5:n.*65C>A
ENST00000320393.8:c.*65C>A	ENSP00000318351.5:n.*65C>A
ENST00000356489.9:c.*8+57C>A	ENSP00000348880.5:n.*8+57C>A
ENST00000491328.1:n.242+57C>A
NM_000056.3:c.*8+57C>A	NP_000047.1:n.*8+57C>A
NM_183050.2:c.*65C>A	NP_898871.1:n.*65C>A
NM_000056.4:c.*8+57C>A	NP_000047.1:n.*8+57C>A
NM_001318975.1:c.*65C>A	NP_001305904.1:n.*65C>A
NM_183050.3:c.*65C>A	NP_898871.1:n.*65C>A
NR_134945.1:n.1422C>A
XM_011536024.3:c.*250C>A	XP_011534326.1:n.*250C>A
XR_001743546.2:n.1068+70648C>A
XR_001743547.2:n.1068+70648C>A
XR_001743548.2:n.1068+70648C>A
XR_001743549.2:n.1068+70648C>A
XR_002956292.1:n.1068+70648C>A
NM_183050.4:c.*65C>A MANE Select	NP_898871.1:n.*65C>A
NR_134945.2:n.1361C>A
NM_000056.5:c.*8+57C>A	NP_000047.1:n.*8+57C>A