Canonical Allele Identifier: CA406013381

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928591T>C (hg19) ; chr19:g.41422686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422686T>C , CM000681.2:g.41422686T>C	GRCh38
NC_000019.9:g.41928591T>C , CM000681.1:g.41928591T>C	GRCh37
NC_000019.8:g.46620431T>C	NCBI36
NG_013004.1:g.29898T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.911T>C MANE Select	ENSP00000269980.2:p.Phe304Ser
ENST00000269980.6:c.911T>C	ENSP00000269980.2:p.Phe304Ser
ENST00000457836.6:c.845T>C	ENSP00000416000.2:p.Phe282Ser
ENST00000535632.5:n.540T>C
ENST00000540732.3:c.1013T>C	ENSP00000443246.1:p.Phe338Ser
ENST00000542943.5:c.824T>C	ENSP00000440345.1:p.Phe275Ser
ENST00000545787.1:n.539T>C
ENST00000595085.5:c.911T>C	ENSP00000471150.2:p.Phe304Ser
NM_000709.3:c.911T>C	NP_000700.1:p.Phe304Ser
NM_001164783.1:c.908T>C	NP_001158255.1:p.Phe303Ser
NM_000709.4:c.911T>C MANE Select	NP_000700.1:p.Phe304Ser
NM_001164783.2:c.908T>C	NP_001158255.1:p.Phe303Ser