Canonical Allele Identifier: CA2585306833

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41410903-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410903A>T , CM000681.2:g.41410903A>T	GRCh38
NC_000019.9:g.41916808A>T , CM000681.1:g.41916808A>T	GRCh37
NC_000019.8:g.46608648A>T	NCBI36
NG_013004.1:g.18115A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.289-20A>T MANE Select	ENSP00000269980.2:n.289-20A>T
ENST00000269980.6:c.289-20A>T	ENSP00000269980.2:n.289-20A>T
ENST00000457836.6:c.223-20A>T	ENSP00000416000.2:n.223-20A>T
ENST00000538423.5:n.395A>T
ENST00000540732.3:c.391-20A>T	ENSP00000443246.1:n.391-20A>T
ENST00000541315.1:c.96-20A>T
ENST00000542943.5:c.288+87A>T	ENSP00000440345.1:n.288+87A>T
ENST00000595085.5:c.289-20A>T	ENSP00000471150.2:n.289-20A>T
NM_000709.3:c.289-20A>T	NP_000700.1:n.289-20A>T
NM_001164783.1:c.289-20A>T	NP_001158255.1:n.289-20A>T
NM_000709.4:c.289-20A>T MANE Select	NP_000700.1:n.289-20A>T
NM_001164783.2:c.289-20A>T	NP_001158255.1:n.289-20A>T