Canonical Allele Identifier: CA3902869

Gene: BCKDHB

Linked Data

• dbSNP Id: rs762310795
• ExAC: 6:81053555 C / T
• gnomAD v2: 6-81053555-C-T
• gnomAD v4: 6-80343838-C-T
• MyVariant Identifiers: chr6:g.81053555C>T (hg19) ; chr6:g.80343838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343838C>T , CM000668.2:g.80343838C>T	GRCh38
NC_000006.11:g.81053555C>T , CM000668.1:g.81053555C>T	GRCh37
NC_000006.10:g.81110274C>T	NCBI36
NG_009775.1:g.242212C>T
NG_009775.2:g.242212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*34C>T MANE Select	ENSP00000318351.5:n.*34C>T
ENST00000320393.8:c.*34C>T	ENSP00000318351.5:n.*34C>T
ENST00000356489.9:c.*8+26C>T	ENSP00000348880.5:n.*8+26C>T
ENST00000491328.1:n.242+26C>T
NM_000056.3:c.*8+26C>T	NP_000047.1:n.*8+26C>T
NM_183050.2:c.*34C>T	NP_898871.1:n.*34C>T
NM_000056.4:c.*8+26C>T	NP_000047.1:n.*8+26C>T
NM_001318975.1:c.*34C>T	NP_001305904.1:n.*34C>T
NM_183050.3:c.*34C>T	NP_898871.1:n.*34C>T
NR_134945.1:n.1391C>T
XM_011536024.3:c.*219C>T	XP_011534326.1:n.*219C>T
XR_001743546.2:n.1068+70617C>T
XR_001743547.2:n.1068+70617C>T
XR_001743548.2:n.1068+70617C>T
XR_001743549.2:n.1068+70617C>T
XR_002956292.1:n.1068+70617C>T
NM_183050.4:c.*34C>T MANE Select	NP_898871.1:n.*34C>T
NR_134945.2:n.1330C>T
NM_000056.5:c.*8+26C>T	NP_000047.1:n.*8+26C>T