Canonical Allele Identifier: CA365021615

Gene: BCKDHB

Linked Data

• MyVariant Identifiers: chr6:g.81053499T>A (hg19) ; chr6:g.80343782T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343782T>A , CM000668.2:g.80343782T>A	GRCh38
NC_000006.11:g.81053499T>A , CM000668.1:g.81053499T>A	GRCh37
NC_000006.10:g.81110218T>A	NCBI36
NG_009775.1:g.242156T>A
NG_009775.2:g.242156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1157T>A MANE Select	ENSP00000318351.5:p.Leu386His
ENST00000320393.8:c.1157T>A	ENSP00000318351.5:p.Leu386His
ENST00000356489.9:c.1157T>A	ENSP00000348880.5:p.Leu386His
ENST00000491328.1:n.212T>A
NM_000056.3:c.1157T>A	NP_000047.1:p.Leu386His
NM_183050.2:c.1157T>A	NP_898871.1:p.Leu386His
XM_006715542.2:c.947T>A	XP_006715605.1:p.Leu316His
XM_011536024.1:c.*163T>A	XP_011534326.1:n.*163T>A
XM_011536026.1:c.947T>A	XP_011534328.1:p.Leu316His
NM_000056.4:c.1157T>A	NP_000047.1:p.Leu386His
NM_001318975.1:c.947T>A	NP_001305904.1:p.Leu316His
NM_183050.3:c.1157T>A	NP_898871.1:p.Leu386His
NR_134945.1:n.1335T>A
XM_011536024.3:c.*163T>A	XP_011534326.1:n.*163T>A
XR_001743546.2:n.1068+70561T>A
XR_001743547.2:n.1068+70561T>A
XR_001743548.2:n.1068+70561T>A
XR_001743549.2:n.1068+70561T>A
XR_002956292.1:n.1068+70561T>A
NM_183050.4:c.1157T>A MANE Select	NP_898871.1:p.Leu386His
NR_134945.2:n.1274T>A
NM_000056.5:c.1157T>A	NP_000047.1:p.Leu386His