Canonical Allele Identifier: CA406012991

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928228A>C (hg19) ; chr19:g.41422323A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422323A>C , CM000681.2:g.41422323A>C	GRCh38
NC_000019.9:g.41928228A>C , CM000681.1:g.41928228A>C	GRCh37
NC_000019.8:g.46620068A>C	NCBI36
NG_013004.1:g.29535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.806A>C MANE Select	ENSP00000269980.2:p.Tyr269Ser
ENST00000269980.6:c.806A>C	ENSP00000269980.2:p.Tyr269Ser
ENST00000457836.6:c.740A>C	ENSP00000416000.2:p.Tyr247Ser
ENST00000535632.5:n.435A>C
ENST00000540732.3:c.908A>C	ENSP00000443246.1:p.Tyr303Ser
ENST00000542943.5:c.719A>C	ENSP00000440345.1:p.Tyr240Ser
ENST00000545787.1:n.434A>C
ENST00000595085.5:c.806A>C	ENSP00000471150.2:p.Tyr269Ser
NM_000709.3:c.806A>C	NP_000700.1:p.Tyr269Ser
NM_001164783.1:c.806A>C	NP_001158255.1:p.Tyr269Ser
NM_000709.4:c.806A>C MANE Select	NP_000700.1:p.Tyr269Ser
NM_001164783.2:c.806A>C	NP_001158255.1:p.Tyr269Ser