Canonical Allele Identifier: CA365021606

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343778-G-A
• MyVariant Identifiers: chr6:g.81053495G>A (hg19) ; chr6:g.80343778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343778G>A , CM000668.2:g.80343778G>A	GRCh38
NC_000006.11:g.81053495G>A , CM000668.1:g.81053495G>A	GRCh37
NC_000006.10:g.81110214G>A	NCBI36
NG_009775.1:g.242152G>A
NG_009775.2:g.242152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1153G>A MANE Select	ENSP00000318351.5:p.Ala385Thr
ENST00000320393.8:c.1153G>A	ENSP00000318351.5:p.Ala385Thr
ENST00000356489.9:c.1153G>A	ENSP00000348880.5:p.Ala385Thr
ENST00000491328.1:n.208G>A
NM_000056.3:c.1153G>A	NP_000047.1:p.Ala385Thr
NM_183050.2:c.1153G>A	NP_898871.1:p.Ala385Thr
XM_006715542.2:c.943G>A	XP_006715605.1:p.Ala315Thr
XM_011536024.1:c.*159G>A	XP_011534326.1:n.*159G>A
XM_011536026.1:c.943G>A	XP_011534328.1:p.Ala315Thr
NM_000056.4:c.1153G>A	NP_000047.1:p.Ala385Thr
NM_001318975.1:c.943G>A	NP_001305904.1:p.Ala315Thr
NM_183050.3:c.1153G>A	NP_898871.1:p.Ala385Thr
NR_134945.1:n.1331G>A
XM_011536024.3:c.*159G>A	XP_011534326.1:n.*159G>A
XR_001743546.2:n.1068+70557G>A
XR_001743547.2:n.1068+70557G>A
XR_001743548.2:n.1068+70557G>A
XR_001743549.2:n.1068+70557G>A
XR_002956292.1:n.1068+70557G>A
NM_183050.4:c.1153G>A MANE Select	NP_898871.1:p.Ala385Thr
NR_134945.2:n.1270G>A
NM_000056.5:c.1153G>A	NP_000047.1:p.Ala385Thr