Canonical Allele Identifier: CA507690684

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928550G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422645G>T , CM000681.2:g.41422645G>T	GRCh38
NC_000019.9:g.41928550G>T , CM000681.1:g.41928550G>T	GRCh37
NC_000019.8:g.46620390G>T	NCBI36
NG_013004.1:g.29857G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.870G>T MANE Select	ENSP00000269980.2:p.Gly290=
ENST00000269980.6:c.870G>T	ENSP00000269980.2:p.Gly290=
ENST00000457836.6:c.804G>T	ENSP00000416000.2:p.Gly268=
ENST00000535632.5:n.499G>T
ENST00000540732.3:c.972G>T	ENSP00000443246.1:p.Gly324=
ENST00000542943.5:c.783G>T	ENSP00000440345.1:p.Gly261=
ENST00000545787.1:n.498G>T
ENST00000595085.5:c.870G>T	ENSP00000471150.2:p.Gly290=
NM_000709.3:c.870G>T	NP_000700.1:p.Gly290=
NM_001164783.1:c.867G>T	NP_001158255.1:p.Gly289=
NM_000709.4:c.870G>T MANE Select	NP_000700.1:p.Gly290=
NM_001164783.2:c.867G>T	NP_001158255.1:p.Gly289=