Canonical Allele Identifier: CA406012898

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928185A>G (hg19) ; chr19:g.41422280A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422280A>G , CM000681.2:g.41422280A>G	GRCh38
NC_000019.9:g.41928185A>G , CM000681.1:g.41928185A>G	GRCh37
NC_000019.8:g.46620025A>G	NCBI36
NG_013004.1:g.29492A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.763A>G MANE Select	ENSP00000269980.2:p.Thr255Ala
ENST00000269980.6:c.763A>G	ENSP00000269980.2:p.Thr255Ala
ENST00000457836.6:c.697A>G	ENSP00000416000.2:p.Thr233Ala
ENST00000535632.5:n.392A>G
ENST00000540732.3:c.865A>G	ENSP00000443246.1:p.Thr289Ala
ENST00000542943.5:c.676A>G	ENSP00000440345.1:p.Thr226Ala
ENST00000545787.1:n.391A>G
ENST00000595085.5:c.763A>G	ENSP00000471150.2:p.Thr255Ala
NM_000709.3:c.763A>G	NP_000700.1:p.Thr255Ala
NM_001164783.1:c.763A>G	NP_001158255.1:p.Thr255Ala
NM_000709.4:c.763A>G MANE Select	NP_000700.1:p.Thr255Ala
NM_001164783.2:c.763A>G	NP_001158255.1:p.Thr255Ala