Canonical Allele Identifier: CA406006042

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916906C>A (hg19) ; chr19:g.41411001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411001C>A , CM000681.2:g.41411001C>A	GRCh38
NC_000019.9:g.41916906C>A , CM000681.1:g.41916906C>A	GRCh37
NC_000019.8:g.46608746C>A	NCBI36
NG_013004.1:g.18213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.367C>A MANE Select	ENSP00000269980.2:p.Gln123Lys
ENST00000269980.6:c.367C>A	ENSP00000269980.2:p.Gln123Lys
ENST00000457836.6:c.301C>A	ENSP00000416000.2:p.Gln101Lys
ENST00000538423.5:n.493C>A
ENST00000540732.3:c.469C>A	ENSP00000443246.1:p.Gln157Lys
ENST00000541315.1:c.174C>A
ENST00000542943.5:c.288+185C>A	ENSP00000440345.1:n.288+185C>A
ENST00000595085.5:c.367C>A	ENSP00000471150.2:p.Gln123Lys
NM_000709.3:c.367C>A	NP_000700.1:p.Gln123Lys
NM_001164783.1:c.367C>A	NP_001158255.1:p.Gln123Lys
NM_000709.4:c.367C>A MANE Select	NP_000700.1:p.Gln123Lys
NM_001164783.2:c.367C>A	NP_001158255.1:p.Gln123Lys