Canonical Allele Identifier: CA406005993

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916901A>C (hg19) ; chr19:g.41410996A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410996A>C , CM000681.2:g.41410996A>C	GRCh38
NC_000019.9:g.41916901A>C , CM000681.1:g.41916901A>C	GRCh37
NC_000019.8:g.46608741A>C	NCBI36
NG_013004.1:g.18208A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.362A>C MANE Select	ENSP00000269980.2:p.Glu121Ala
ENST00000269980.6:c.362A>C	ENSP00000269980.2:p.Glu121Ala
ENST00000457836.6:c.296A>C	ENSP00000416000.2:p.Glu99Ala
ENST00000538423.5:n.488A>C
ENST00000540732.3:c.464A>C	ENSP00000443246.1:p.Glu155Ala
ENST00000541315.1:c.169A>C
ENST00000542943.5:c.288+180A>C	ENSP00000440345.1:n.288+180A>C
ENST00000595085.5:c.362A>C	ENSP00000471150.2:p.Glu121Ala
NM_000709.3:c.362A>C	NP_000700.1:p.Glu121Ala
NM_001164783.1:c.362A>C	NP_001158255.1:p.Glu121Ala
NM_000709.4:c.362A>C MANE Select	NP_000700.1:p.Glu121Ala
NM_001164783.2:c.362A>C	NP_001158255.1:p.Glu121Ala