Canonical Allele Identifier: CA406004729

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916633T>G (hg19) ; chr19:g.41410728T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410728T>G , CM000681.2:g.41410728T>G	GRCh38
NC_000019.9:g.41916633T>G , CM000681.1:g.41916633T>G	GRCh37
NC_000019.8:g.46608473T>G	NCBI36
NG_013004.1:g.17940T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.200T>G MANE Select	ENSP00000269980.2:p.Phe67Cys
ENST00000269980.6:c.200T>G	ENSP00000269980.2:p.Phe67Cys
ENST00000457836.6:c.134T>G	ENSP00000416000.2:p.Phe45Cys
ENST00000538423.5:n.220T>G
ENST00000540732.3:c.302T>G	ENSP00000443246.1:p.Phe101Cys
ENST00000541315.1:c.7T>G
ENST00000542943.5:c.200T>G	ENSP00000440345.1:p.Phe67Cys
ENST00000595085.5:c.200T>G	ENSP00000471150.2:p.Phe67Cys
ENST00000604424.1:n.442T>G
NM_000709.3:c.200T>G	NP_000700.1:p.Phe67Cys
NM_001164783.1:c.200T>G	NP_001158255.1:p.Phe67Cys
NM_000709.4:c.200T>G MANE Select	NP_000700.1:p.Phe67Cys
NM_001164783.2:c.200T>G	NP_001158255.1:p.Phe67Cys