Canonical Allele Identifier: CA406013303

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928560A>C (hg19) ; chr19:g.41422655A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422655A>C , CM000681.2:g.41422655A>C	GRCh38
NC_000019.9:g.41928560A>C , CM000681.1:g.41928560A>C	GRCh37
NC_000019.8:g.46620400A>C	NCBI36
NG_013004.1:g.29867A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.880A>C MANE Select	ENSP00000269980.2:p.Met294Leu
ENST00000269980.6:c.880A>C	ENSP00000269980.2:p.Met294Leu
ENST00000457836.6:c.814A>C	ENSP00000416000.2:p.Met272Leu
ENST00000535632.5:n.509A>C
ENST00000540732.3:c.982A>C	ENSP00000443246.1:p.Met328Leu
ENST00000542943.5:c.793A>C	ENSP00000440345.1:p.Met265Leu
ENST00000545787.1:n.508A>C
ENST00000595085.5:c.880A>C	ENSP00000471150.2:p.Met294Leu
NM_000709.3:c.880A>C	NP_000700.1:p.Met294Leu
NM_001164783.1:c.877A>C	NP_001158255.1:p.Met293Leu
NM_000709.4:c.880A>C MANE Select	NP_000700.1:p.Met294Leu
NM_001164783.2:c.877A>C	NP_001158255.1:p.Met293Leu