Canonical Allele Identifier: CA507690329

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928088A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422183A>C , CM000681.2:g.41422183A>C	GRCh38
NC_000019.9:g.41928088A>C , CM000681.1:g.41928088A>C	GRCh37
NC_000019.8:g.46619928A>C	NCBI36
NG_013004.1:g.29395A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.666A>C MANE Select	ENSP00000269980.2:p.Ala222=
ENST00000269980.6:c.666A>C	ENSP00000269980.2:p.Ala222=
ENST00000457836.6:c.600A>C	ENSP00000416000.2:p.Ala200=
ENST00000535632.5:n.295A>C
ENST00000538423.5:n.792A>C
ENST00000540732.3:c.768A>C	ENSP00000443246.1:p.Ala256=
ENST00000541315.1:c.566A>C
ENST00000542943.5:c.579A>C	ENSP00000440345.1:p.Ala193=
ENST00000545787.1:n.294A>C
ENST00000595085.5:c.666A>C	ENSP00000471150.2:p.Ala222=
NM_000709.3:c.666A>C	NP_000700.1:p.Ala222=
NM_001164783.1:c.666A>C	NP_001158255.1:p.Ala222=
NM_000709.4:c.666A>C MANE Select	NP_000700.1:p.Ala222=
NM_001164783.2:c.666A>C	NP_001158255.1:p.Ala222=