Canonical Allele Identifier: CA364657940

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80168977-C-G
• MyVariant Identifiers: chr6:g.80878694C>G (hg19) ; chr6:g.80168977C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168977C>G , CM000668.2:g.80168977C>G	GRCh38
NC_000006.11:g.80878694C>G , CM000668.1:g.80878694C>G	GRCh37
NC_000006.10:g.80935413C>G	NCBI36
NG_009775.1:g.67351C>G
NG_009775.2:g.67351C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.580C>G MANE Select	ENSP00000318351.5:p.Leu194Val
ENST00000320393.8:c.580C>G	ENSP00000318351.5:p.Leu194Val
ENST00000356489.9:c.580C>G	ENSP00000348880.5:p.Leu194Val
ENST00000369760.8:c.580C>G	ENSP00000358775.4:p.Leu194Val
NM_000056.3:c.580C>G	NP_000047.1:p.Leu194Val
NM_183050.2:c.580C>G	NP_898871.1:p.Leu194Val
XM_005248756.3:c.580C>G	XP_005248813.1:p.Leu194Val
XM_006715542.2:c.370C>G	XP_006715605.1:p.Leu124Val
XM_011536023.1:c.580C>G	XP_011534325.1:p.Leu194Val
XM_011536024.1:c.580C>G	XP_011534326.1:p.Leu194Val
XM_011536025.1:c.580C>G	XP_011534327.1:p.Leu194Val
XM_011536026.1:c.370C>G	XP_011534328.1:p.Leu124Val
XM_011536027.1:c.580C>G	XP_011534329.1:p.Leu194Val
NM_000056.4:c.580C>G	NP_000047.1:p.Leu194Val
NM_001318975.1:c.370C>G	NP_001305904.1:p.Leu124Val
NM_183050.3:c.580C>G	NP_898871.1:p.Leu194Val
NR_134945.1:n.664C>G
XM_005248756.5:c.580C>G	XP_005248813.1:p.Leu194Val
XM_011536023.3:c.580C>G	XP_011534325.1:p.Leu194Val
XM_011536024.3:c.580C>G	XP_011534326.1:p.Leu194Val
XM_011536025.3:c.580C>G	XP_011534327.1:p.Leu194Val
XR_001743546.2:n.610C>G
XR_001743547.2:n.610C>G
XR_001743548.2:n.610C>G
XR_001743549.2:n.610C>G
XR_002956292.1:n.610C>G
NM_183050.4:c.580C>G MANE Select	NP_898871.1:p.Leu194Val
NR_134945.2:n.603C>G
NM_000056.5:c.580C>G	NP_000047.1:p.Leu194Val