Canonical Allele Identifier: CA507690657

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422348-G-A
• MyVariant Identifiers: chr19:g.41928253G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422348G>A , CM000681.2:g.41422348G>A	GRCh38
NC_000019.9:g.41928253G>A , CM000681.1:g.41928253G>A	GRCh37
NC_000019.8:g.46620093G>A	NCBI36
NG_013004.1:g.29560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.831G>A MANE Select	ENSP00000269980.2:p.Glu277=
ENST00000269980.6:c.831G>A	ENSP00000269980.2:p.Glu277=
ENST00000457836.6:c.765G>A	ENSP00000416000.2:p.Glu255=
ENST00000535632.5:n.460G>A
ENST00000540732.3:c.933G>A	ENSP00000443246.1:p.Glu311=
ENST00000542943.5:c.744G>A	ENSP00000440345.1:p.Glu248=
ENST00000545787.1:n.459G>A
ENST00000595085.5:c.831G>A	ENSP00000471150.2:p.Glu277=
NM_000709.3:c.831G>A	NP_000700.1:p.Glu277=
NM_001164783.1:c.831G>A	NP_001158255.1:p.Glu277=
NM_000709.4:c.831G>A MANE Select	NP_000700.1:p.Glu277=
NM_001164783.2:c.831G>A	NP_001158255.1:p.Glu277=