Canonical Allele Identifier: CA406005351

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41410935-A-G
• MyVariant Identifiers: chr19:g.41916840A>G (hg19) ; chr19:g.41410935A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410935A>G , CM000681.2:g.41410935A>G	GRCh38
NC_000019.9:g.41916840A>G , CM000681.1:g.41916840A>G	GRCh37
NC_000019.8:g.46608680A>G	NCBI36
NG_013004.1:g.18147A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.301A>G MANE Select	ENSP00000269980.2:p.Lys101Glu
ENST00000269980.6:c.301A>G	ENSP00000269980.2:p.Lys101Glu
ENST00000457836.6:c.235A>G	ENSP00000416000.2:p.Lys79Glu
ENST00000538423.5:n.427A>G
ENST00000540732.3:c.403A>G	ENSP00000443246.1:p.Lys135Glu
ENST00000541315.1:c.108A>G
ENST00000542943.5:c.288+119A>G	ENSP00000440345.1:n.288+119A>G
ENST00000595085.5:c.301A>G	ENSP00000471150.2:p.Lys101Glu
NM_000709.3:c.301A>G	NP_000700.1:p.Lys101Glu
NM_001164783.1:c.301A>G	NP_001158255.1:p.Lys101Glu
NM_000709.4:c.301A>G MANE Select	NP_000700.1:p.Lys101Glu
NM_001164783.2:c.301A>G	NP_001158255.1:p.Lys101Glu