Canonical Allele Identifier: CA3902809

Gene: BCKDHB

Linked Data

• dbSNP Id: rs759198446
• ExAC: 6:80982826 C / T
• gnomAD v2: 6-80982826-C-T
• gnomAD v4: 6-80273109-C-T
• MyVariant Identifiers: chr6:g.80982826C>T (hg19) ; chr6:g.80273109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80273109C>T , CM000668.2:g.80273109C>T	GRCh38
NC_000006.11:g.80982826C>T , CM000668.1:g.80982826C>T	GRCh37
NC_000006.10:g.81039545C>T	NCBI36
NG_009775.1:g.171483C>T
NG_009775.2:g.171483C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.952-26C>T MANE Select	ENSP00000318351.5:n.952-26C>T
ENST00000320393.8:c.952-26C>T	ENSP00000318351.5:n.952-26C>T
ENST00000356489.9:c.952-26C>T	ENSP00000348880.5:n.952-26C>T
ENST00000468520.1:n.182-26C>T
NM_000056.3:c.952-26C>T	NP_000047.1:n.952-26C>T
NM_183050.2:c.952-26C>T	NP_898871.1:n.952-26C>T
XM_005248756.3:c.952-26C>T	XP_005248813.1:n.952-26C>T
XM_006715542.2:c.742-26C>T	XP_006715605.1:n.742-26C>T
XM_011536023.1:c.952-26C>T	XP_011534325.1:n.952-26C>T
XM_011536024.1:c.952-26C>T	XP_011534326.1:n.952-26C>T
XM_011536025.1:c.952-26C>T	XP_011534327.1:n.952-26C>T
XM_011536026.1:c.742-26C>T	XP_011534328.1:n.742-26C>T
NM_000056.4:c.952-26C>T	NP_000047.1:n.952-26C>T
NM_001318975.1:c.742-26C>T	NP_001305904.1:n.742-26C>T
NM_183050.3:c.952-26C>T	NP_898871.1:n.952-26C>T
NR_134945.1:n.1130-26C>T
XM_005248756.5:c.952-26C>T	XP_005248813.1:n.952-26C>T
XM_011536023.3:c.952-26C>T	XP_011534325.1:n.952-26C>T
XM_011536024.3:c.952-26C>T	XP_011534326.1:n.952-26C>T
XM_011536025.3:c.952-26C>T	XP_011534327.1:n.952-26C>T
XR_001743546.2:n.982-26C>T
XR_001743547.2:n.982-26C>T
XR_001743548.2:n.982-26C>T
XR_001743549.2:n.982-26C>T
XR_002956292.1:n.982-26C>T
NM_183050.4:c.952-26C>T MANE Select	NP_898871.1:n.952-26C>T
NR_134945.2:n.1069-26C>T
NM_000056.5:c.952-26C>T	NP_000047.1:n.952-26C>T