Canonical Allele Identifier: CA2585308059

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422499-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422499G>T , CM000681.2:g.41422499G>T	GRCh38
NC_000019.9:g.41928404G>T , CM000681.1:g.41928404G>T	GRCh37
NC_000019.8:g.46620244G>T	NCBI36
NG_013004.1:g.29711G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.854-130G>T MANE Select	ENSP00000269980.2:n.854-130G>T
ENST00000269980.6:c.854-130G>T	ENSP00000269980.2:n.854-130G>T
ENST00000457836.6:c.788-130G>T	ENSP00000416000.2:n.788-130G>T
ENST00000535632.5:n.483-130G>T
ENST00000540732.3:c.956-130G>T	ENSP00000443246.1:n.956-130G>T
ENST00000542943.5:c.767-130G>T	ENSP00000440345.1:n.767-130G>T
ENST00000545787.1:n.482-130G>T
ENST00000595085.5:c.854-130G>T	ENSP00000471150.2:n.854-130G>T
NM_000709.3:c.854-130G>T	NP_000700.1:n.854-130G>T
NM_001164783.1:c.853+129G>T	NP_001158255.1:n.853+129G>T
NM_000709.4:c.854-130G>T MANE Select	NP_000700.1:n.854-130G>T
NM_001164783.2:c.853+129G>T	NP_001158255.1:n.853+129G>T