Canonical Allele Identifier: CA406012850

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928162A>T (hg19) ; chr19:g.41422257A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422257A>T , CM000681.2:g.41422257A>T	GRCh38
NC_000019.9:g.41928162A>T , CM000681.1:g.41928162A>T	GRCh37
NC_000019.8:g.46620002A>T	NCBI36
NG_013004.1:g.29469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.740A>T MANE Select	ENSP00000269980.2:p.His247Leu
ENST00000269980.6:c.740A>T	ENSP00000269980.2:p.His247Leu
ENST00000457836.6:c.674A>T	ENSP00000416000.2:p.His225Leu
ENST00000535632.5:n.369A>T
ENST00000540732.3:c.842A>T	ENSP00000443246.1:p.His281Leu
ENST00000542943.5:c.653A>T	ENSP00000440345.1:p.His218Leu
ENST00000545787.1:n.368A>T
ENST00000595085.5:c.740A>T	ENSP00000471150.2:p.His247Leu
NM_000709.3:c.740A>T	NP_000700.1:p.His247Leu
NM_001164783.1:c.740A>T	NP_001158255.1:p.His247Leu
NM_000709.4:c.740A>T MANE Select	NP_000700.1:p.His247Leu
NM_001164783.2:c.740A>T	NP_001158255.1:p.His247Leu