Canonical Allele Identifier: CA406012845

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928161C>T (hg19) ; chr19:g.41422256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422256C>T , CM000681.2:g.41422256C>T	GRCh38
NC_000019.9:g.41928161C>T , CM000681.1:g.41928161C>T	GRCh37
NC_000019.8:g.46620001C>T	NCBI36
NG_013004.1:g.29468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.739C>T MANE Select	ENSP00000269980.2:p.His247Tyr
ENST00000269980.6:c.739C>T	ENSP00000269980.2:p.His247Tyr
ENST00000457836.6:c.673C>T	ENSP00000416000.2:p.His225Tyr
ENST00000535632.5:n.368C>T
ENST00000540732.3:c.841C>T	ENSP00000443246.1:p.His281Tyr
ENST00000542943.5:c.652C>T	ENSP00000440345.1:p.His218Tyr
ENST00000545787.1:n.367C>T
ENST00000595085.5:c.739C>T	ENSP00000471150.2:p.His247Tyr
NM_000709.3:c.739C>T	NP_000700.1:p.His247Tyr
NM_001164783.1:c.739C>T	NP_001158255.1:p.His247Tyr
NM_000709.4:c.739C>T MANE Select	NP_000700.1:p.His247Tyr
NM_001164783.2:c.739C>T	NP_001158255.1:p.His247Tyr