Canonical Allele Identifier: CA9461611

Gene: B3GNT8 BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41426055C>G , CM000681.2:g.41426055C>G	GRCh38
NC_000019.9:g.41931960C>G , CM000681.1:g.41931960C>G	GRCh37
NC_000019.8:g.46623800C>G	NCBI36
NG_013004.1:g.33267C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691102.1:c.724G>C (B3GNT8) MANE Select	ENSP00000510371.1:p.Val242Leu
ENST00000321702.2:c.724G>C (B3GNT8)	ENSP00000312700.1:p.Val242Leu
ENST00000595085.5:c.922+3358C>G (BCKDHA)	ENSP00000471150.2:n.922+3358C>G
ENST00000601616.1:n.37-565G>C (B3GNT8)
NM_198540.2:c.724G>C (B3GNT8)	NP_940942.1:p.Val242Leu
XM_011526934.1:c.724G>C (B3GNT8)	XP_011525236.1:p.Val242Leu
XM_011526934.2:c.724G>C (B3GNT8)	XP_011525236.1:p.Val242Leu
NM_001385648.2:c.724G>C (B3GNT8) MANE Select	NP_001372577.1:p.Val242Leu