Canonical Allele Identifier: CA507690556

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928181T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422276T>C , CM000681.2:g.41422276T>C	GRCh38
NC_000019.9:g.41928181T>C , CM000681.1:g.41928181T>C	GRCh37
NC_000019.8:g.46620021T>C	NCBI36
NG_013004.1:g.29488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.759T>C MANE Select	ENSP00000269980.2:p.Ala253=
ENST00000269980.6:c.759T>C	ENSP00000269980.2:p.Ala253=
ENST00000457836.6:c.693T>C	ENSP00000416000.2:p.Ala231=
ENST00000535632.5:n.388T>C
ENST00000540732.3:c.861T>C	ENSP00000443246.1:p.Ala287=
ENST00000542943.5:c.672T>C	ENSP00000440345.1:p.Ala224=
ENST00000545787.1:n.387T>C
ENST00000595085.5:c.759T>C	ENSP00000471150.2:p.Ala253=
NM_000709.3:c.759T>C	NP_000700.1:p.Ala253=
NM_001164783.1:c.759T>C	NP_001158255.1:p.Ala253=
NM_000709.4:c.759T>C MANE Select	NP_000700.1:p.Ala253=
NM_001164783.2:c.759T>C	NP_001158255.1:p.Ala253=