Canonical Allele Identifier: CA406013762

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928914A>T (hg19) ; chr19:g.41423009A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423009A>T , CM000681.2:g.41423009A>T	GRCh38
NC_000019.9:g.41928914A>T , CM000681.1:g.41928914A>T	GRCh37
NC_000019.8:g.46620754A>T	NCBI36
NG_013004.1:g.30221A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1007A>T MANE Select	ENSP00000269980.2:p.His336Leu
ENST00000269980.6:c.1007A>T	ENSP00000269980.2:p.His336Leu
ENST00000457836.6:c.1016A>T	ENSP00000416000.2:p.His339Leu
ENST00000540732.3:c.1109A>T	ENSP00000443246.1:p.His370Leu
ENST00000542943.5:c.920A>T	ENSP00000440345.1:p.His307Leu
ENST00000595085.5:c.922+312A>T	ENSP00000471150.2:n.922+312A>T
NM_000709.3:c.1007A>T	NP_000700.1:p.His336Leu
NM_001164783.1:c.1004A>T	NP_001158255.1:p.His335Leu
NM_000709.4:c.1007A>T MANE Select	NP_000700.1:p.His336Leu
NM_001164783.2:c.1004A>T	NP_001158255.1:p.His335Leu