Canonical Allele Identifier: CA406006096

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916910G>T (hg19) ; chr19:g.41411005G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411005G>T , CM000681.2:g.41411005G>T	GRCh38
NC_000019.9:g.41916910G>T , CM000681.1:g.41916910G>T	GRCh37
NC_000019.8:g.46608750G>T	NCBI36
NG_013004.1:g.18217G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.371G>T MANE Select	ENSP00000269980.2:p.Arg124Leu
ENST00000269980.6:c.371G>T	ENSP00000269980.2:p.Arg124Leu
ENST00000457836.6:c.305G>T	ENSP00000416000.2:p.Arg102Leu
ENST00000538423.5:n.497G>T
ENST00000540732.3:c.473G>T	ENSP00000443246.1:p.Arg158Leu
ENST00000541315.1:c.178G>T
ENST00000542943.5:c.288+189G>T	ENSP00000440345.1:n.288+189G>T
ENST00000595085.5:c.371G>T	ENSP00000471150.2:p.Arg124Leu
NM_000709.3:c.371G>T	NP_000700.1:p.Arg124Leu
NM_001164783.1:c.371G>T	NP_001158255.1:p.Arg124Leu
NM_000709.4:c.371G>T MANE Select	NP_000700.1:p.Arg124Leu
NM_001164783.2:c.371G>T	NP_001158255.1:p.Arg124Leu