Canonical Allele Identifier: CA364658370

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1352196182
• gnomAD v2: 6-80816572-T-A
• MyVariant Identifiers: chr6:g.80816572T>A (hg19) ; chr6:g.80106855T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106855T>A , CM000668.2:g.80106855T>A	GRCh38
NC_000006.11:g.80816572T>A , CM000668.1:g.80816572T>A	GRCh37
NC_000006.10:g.80873291T>A	NCBI36
NG_009775.1:g.5229T>A
NG_009775.2:g.5229T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.162T>A MANE Select	ENSP00000318351.5:p.Phe54Leu
ENST00000320393.8:c.162T>A	ENSP00000318351.5:p.Phe54Leu
ENST00000356489.9:c.162T>A	ENSP00000348880.5:p.Phe54Leu
ENST00000369760.8:c.162T>A	ENSP00000358775.4:p.Phe54Leu
NM_000056.3:c.162T>A	NP_000047.1:p.Phe54Leu
NM_183050.2:c.162T>A	NP_898871.1:p.Phe54Leu
XM_005248756.3:c.162T>A	XP_005248813.1:p.Phe54Leu
XM_006715542.2:c.-15+172T>A	XP_006715605.1:n.-15+172T>A
XM_011536023.1:c.162T>A	XP_011534325.1:p.Phe54Leu
XM_011536024.1:c.162T>A	XP_011534326.1:p.Phe54Leu
XM_011536025.1:c.162T>A	XP_011534327.1:p.Phe54Leu
XM_011536027.1:c.162T>A	XP_011534329.1:p.Phe54Leu
NM_000056.4:c.162T>A	NP_000047.1:p.Phe54Leu
NM_001318975.1:c.-15+172T>A	NP_001305904.1:n.-15+172T>A
NM_183050.3:c.162T>A	NP_898871.1:p.Phe54Leu
NR_134945.1:n.246T>A
XM_005248756.5:c.162T>A	XP_005248813.1:p.Phe54Leu
XM_011536023.3:c.162T>A	XP_011534325.1:p.Phe54Leu
XM_011536024.3:c.162T>A	XP_011534326.1:p.Phe54Leu
XM_011536025.3:c.162T>A	XP_011534327.1:p.Phe54Leu
XR_001743546.2:n.192T>A
XR_001743547.2:n.192T>A
XR_001743548.2:n.192T>A
XR_001743549.2:n.192T>A
XR_002956292.1:n.192T>A
NM_183050.4:c.162T>A MANE Select	NP_898871.1:p.Phe54Leu
NR_134945.2:n.185T>A
NM_000056.5:c.162T>A	NP_000047.1:p.Phe54Leu