Canonical Allele Identifier: CA568600919

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1312612667
• gnomAD v2: 6-80816379-G-A
• gnomAD v4: 6-80106662-G-A
• MyVariant Identifiers: chr6:g.80816379G>A (hg19) ; chr6:g.80106662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106662G>A , CM000668.2:g.80106662G>A	GRCh38
NC_000006.11:g.80816379G>A , CM000668.1:g.80816379G>A	GRCh37
NC_000006.10:g.80873098G>A	NCBI36
NG_009775.1:g.5036G>A
NG_009775.2:g.5036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.8:c.-32G>A	ENSP00000318351.5:n.-32G>A
ENST00000356489.9:c.-32G>A	ENSP00000348880.5:n.-32G>A
ENST00000369760.8:c.-32G>A	ENSP00000358775.4:n.-32G>A
NM_000056.3:c.-32G>A	NP_000047.1:n.-32G>A
NM_183050.2:c.-32G>A	NP_898871.1:n.-32G>A
XM_005248756.3:c.-32G>A	XP_005248813.1:n.-32G>A
XM_006715542.2:c.-36G>A	XP_006715605.1:n.-36G>A
XM_011536023.1:c.-32G>A	XP_011534325.1:n.-32G>A
XM_011536024.1:c.-32G>A	XP_011534326.1:n.-32G>A
XM_011536025.1:c.-32G>A	XP_011534327.1:n.-32G>A
XM_011536027.1:c.-32G>A	XP_011534329.1:n.-32G>A
NM_000056.4:c.-32G>A	NP_000047.1:n.-32G>A
NM_001318975.1:c.-36G>A	NP_001305904.1:n.-36G>A
NM_183050.3:c.-32G>A	NP_898871.1:n.-32G>A
NR_134945.1:n.53G>A