Canonical Allele Identifier: CA406015677

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930485A>T (hg19) ; chr19:g.41424580A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424580A>T , CM000681.2:g.41424580A>T	GRCh38
NC_000019.9:g.41930485A>T , CM000681.1:g.41930485A>T	GRCh37
NC_000019.8:g.46622325A>T	NCBI36
NG_013004.1:g.31792A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1310A>T MANE Select	ENSP00000269980.2:p.His437Leu
ENST00000269980.6:c.1310A>T	ENSP00000269980.2:p.His437Leu
ENST00000457836.6:c.1319A>T	ENSP00000416000.2:p.His440Leu
ENST00000540732.3:c.1412A>T	ENSP00000443246.1:p.His471Leu
ENST00000544905.1:c.140A>T
ENST00000595085.5:c.922+1883A>T	ENSP00000471150.2:n.922+1883A>T
NM_000709.3:c.1310A>T	NP_000700.1:p.His437Leu
NM_001164783.1:c.1307A>T	NP_001158255.1:p.His436Leu
NM_000709.4:c.1310A>T MANE Select	NP_000700.1:p.His437Leu
NM_001164783.2:c.1307A>T	NP_001158255.1:p.His436Leu