Canonical Allele Identifier: CA406005439

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410942T>C , CM000681.2:g.41410942T>C	GRCh38
NC_000019.9:g.41916847T>C , CM000681.1:g.41916847T>C	GRCh37
NC_000019.8:g.46608687T>C	NCBI36
NG_013004.1:g.18154T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.308T>C MANE Select	NP_000700.1:p.Leu103Pro
ENST00000269980.7:c.308T>C MANE Select	ENSP00000269980.2:p.Leu103Pro
NM_000709.3:c.308T>C	NP_000700.1:p.Leu103Pro
NM_001164783.1:c.308T>C	NP_001158255.1:p.Leu103Pro
NM_001164783.2:c.308T>C	NP_001158255.1:p.Leu103Pro
ENST00000269980.6:c.308T>C	ENSP00000269980.2:p.Leu103Pro
ENST00000457836.6:c.242T>C	ENSP00000416000.2:p.Leu81Pro
ENST00000538423.5:n.434T>C
ENST00000540732.3:c.410T>C	ENSP00000443246.1:p.Leu137Pro
ENST00000541315.1:c.115T>C
ENST00000542943.5:c.288+126T>C	ENSP00000440345.1:n.288+126T>C
ENST00000595085.5:c.308T>C	ENSP00000471150.2:p.Leu103Pro