Canonical Allele Identifier: CA406012947

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928207T>C (hg19) ; chr19:g.41422302T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422302T>C , CM000681.2:g.41422302T>C	GRCh38
NC_000019.9:g.41928207T>C , CM000681.1:g.41928207T>C	GRCh37
NC_000019.8:g.46620047T>C	NCBI36
NG_013004.1:g.29514T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.785T>C MANE Select	ENSP00000269980.2:p.Phe262Ser
ENST00000269980.6:c.785T>C	ENSP00000269980.2:p.Phe262Ser
ENST00000457836.6:c.719T>C	ENSP00000416000.2:p.Phe240Ser
ENST00000535632.5:n.414T>C
ENST00000540732.3:c.887T>C	ENSP00000443246.1:p.Phe296Ser
ENST00000542943.5:c.698T>C	ENSP00000440345.1:p.Phe233Ser
ENST00000545787.1:n.413T>C
ENST00000595085.5:c.785T>C	ENSP00000471150.2:p.Phe262Ser
NM_000709.3:c.785T>C	NP_000700.1:p.Phe262Ser
NM_001164783.1:c.785T>C	NP_001158255.1:p.Phe262Ser
NM_000709.4:c.785T>C MANE Select	NP_000700.1:p.Phe262Ser
NM_001164783.2:c.785T>C	NP_001158255.1:p.Phe262Ser