Canonical Allele Identifier: CA995976370

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039372578
• gnomAD v3: 19-41422147-C-CCT
• gnomAD v4: 19-41422147-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422151_41422152dup , CM000681.2:g.41422151_41422152dup	GRCh38
NC_000019.9:g.41928056_41928057dup , CM000681.1:g.41928056_41928057dup	GRCh37
NC_000019.8:g.46619896_46619897dup	NCBI36
NG_013004.1:g.29363_29364dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.647-13_647-12dup MANE Select	ENSP00000269980.2:n.647-13_647-12dup
ENST00000269980.6:c.647-13_647-12dup	ENSP00000269980.2:n.647-13_647-12dup
ENST00000457836.6:c.581-13_581-12dup	ENSP00000416000.2:n.581-13_581-12dup
ENST00000535632.5:n.276-13_276-12dup
ENST00000538423.5:n.773-13_773-12dup
ENST00000540732.3:c.749-13_749-12dup	ENSP00000443246.1:n.749-13_749-12dup
ENST00000541315.1:c.547-13_547-12dup
ENST00000542943.5:c.560-13_560-12dup	ENSP00000440345.1:n.560-13_560-12dup
ENST00000545787.1:n.275-13_275-12dup
ENST00000595085.5:c.647-13_647-12dup	ENSP00000471150.2:n.647-13_647-12dup
NM_000709.3:c.647-13_647-12dup	NP_000700.1:n.647-13_647-12dup
NM_001164783.1:c.647-13_647-12dup	NP_001158255.1:n.647-13_647-12dup
NM_000709.4:c.647-13_647-12dup MANE Select	NP_000700.1:n.647-13_647-12dup
NM_001164783.2:c.647-13_647-12dup	NP_001158255.1:n.647-13_647-12dup