Canonical Allele Identifier: CA406008343

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41920050T>G (hg19) ; chr19:g.41414145T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414145T>G , CM000681.2:g.41414145T>G	GRCh38
NC_000019.9:g.41920050T>G , CM000681.1:g.41920050T>G	GRCh37
NC_000019.8:g.46611890T>G	NCBI36
NG_013004.1:g.21357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.472T>G MANE Select	ENSP00000269980.2:p.Tyr158Asp
ENST00000269980.6:c.472T>G	ENSP00000269980.2:p.Tyr158Asp
ENST00000457836.6:c.406T>G	ENSP00000416000.2:p.Tyr136Asp
ENST00000538423.5:n.598T>G
ENST00000540732.3:c.574T>G	ENSP00000443246.1:p.Tyr192Asp
ENST00000541315.1:c.279T>G
ENST00000542943.5:c.385T>G	ENSP00000440345.1:p.Tyr129Asp
ENST00000595085.5:c.472T>G	ENSP00000471150.2:p.Tyr158Asp
NM_000709.3:c.472T>G	NP_000700.1:p.Tyr158Asp
NM_001164783.1:c.472T>G	NP_001158255.1:p.Tyr158Asp
NM_000709.4:c.472T>G MANE Select	NP_000700.1:p.Tyr158Asp
NM_001164783.2:c.472T>G	NP_001158255.1:p.Tyr158Asp