Canonical Allele Identifier: CA364658476

Gene: BCKDHB

Linked Data

• MyVariant Identifiers: chr6:g.80881000T>G (hg19) ; chr6:g.80171283T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171283T>G , CM000668.2:g.80171283T>G	GRCh38
NC_000006.11:g.80881000T>G , CM000668.1:g.80881000T>G	GRCh37
NC_000006.10:g.80937719T>G	NCBI36
NG_009775.1:g.69657T>G
NG_009775.2:g.69657T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.635T>G MANE Select	ENSP00000318351.5:p.Val212Gly
ENST00000320393.8:c.635T>G	ENSP00000318351.5:p.Val212Gly
ENST00000356489.9:c.635T>G	ENSP00000348880.5:p.Val212Gly
NM_000056.3:c.635T>G	NP_000047.1:p.Val212Gly
NM_183050.2:c.635T>G	NP_898871.1:p.Val212Gly
XM_005248756.3:c.635T>G	XP_005248813.1:p.Val212Gly
XM_006715542.2:c.425T>G	XP_006715605.1:p.Val142Gly
XM_011536023.1:c.635T>G	XP_011534325.1:p.Val212Gly
XM_011536024.1:c.635T>G	XP_011534326.1:p.Val212Gly
XM_011536025.1:c.635T>G	XP_011534327.1:p.Val212Gly
XM_011536026.1:c.425T>G	XP_011534328.1:p.Val142Gly
NM_000056.4:c.635T>G	NP_000047.1:p.Val212Gly
NM_001318975.1:c.425T>G	NP_001305904.1:p.Val142Gly
NM_183050.3:c.635T>G	NP_898871.1:p.Val212Gly
NR_134945.1:n.813T>G
XM_005248756.5:c.635T>G	XP_005248813.1:p.Val212Gly
XM_011536023.3:c.635T>G	XP_011534325.1:p.Val212Gly
XM_011536024.3:c.635T>G	XP_011534326.1:p.Val212Gly
XM_011536025.3:c.635T>G	XP_011534327.1:p.Val212Gly
XR_001743546.2:n.665T>G
XR_001743547.2:n.665T>G
XR_001743548.2:n.665T>G
XR_001743549.2:n.665T>G
XR_002956292.1:n.665T>G
NM_183050.4:c.635T>G MANE Select	NP_898871.1:p.Val212Gly
NR_134945.2:n.752T>G
NM_000056.5:c.635T>G	NP_000047.1:p.Val212Gly