Canonical Allele Identifier: CA406022784

Gene: B3GNT8 BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41426672G>A , CM000681.2:g.41426672G>A	GRCh38
NC_000019.9:g.41932577G>A , CM000681.1:g.41932577G>A	GRCh37
NC_000019.8:g.46624417G>A	NCBI36
NG_013004.1:g.33884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691102.1:c.107C>T (B3GNT8) MANE Select	ENSP00000510371.1:p.Pro36Leu
ENST00000321702.2:c.107C>T (B3GNT8)	ENSP00000312700.1:p.Pro36Leu
ENST00000595085.5:c.922+3975G>A (BCKDHA)	ENSP00000471150.2:n.922+3975G>A
ENST00000601379.1:n.80-233C>T (B3GNT8)
ENST00000601616.1:n.36+851C>T (B3GNT8)
NM_198540.2:c.107C>T (B3GNT8)	NP_940942.1:p.Pro36Leu
XM_011526934.1:c.107C>T (B3GNT8)	XP_011525236.1:p.Pro36Leu
XM_011526934.2:c.107C>T (B3GNT8)	XP_011525236.1:p.Pro36Leu
NM_001385648.2:c.107C>T (B3GNT8) MANE Select	NP_001372577.1:p.Pro36Leu