Canonical Allele Identifier: CA406012968

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928218A>T (hg19) ; chr19:g.41422313A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422313A>T , CM000681.2:g.41422313A>T	GRCh38
NC_000019.9:g.41928218A>T , CM000681.1:g.41928218A>T	GRCh37
NC_000019.8:g.46620058A>T	NCBI36
NG_013004.1:g.29525A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.796A>T MANE Select	ENSP00000269980.2:p.Asn266Tyr
ENST00000269980.6:c.796A>T	ENSP00000269980.2:p.Asn266Tyr
ENST00000457836.6:c.730A>T	ENSP00000416000.2:p.Asn244Tyr
ENST00000535632.5:n.425A>T
ENST00000540732.3:c.898A>T	ENSP00000443246.1:p.Asn300Tyr
ENST00000542943.5:c.709A>T	ENSP00000440345.1:p.Asn237Tyr
ENST00000545787.1:n.424A>T
ENST00000595085.5:c.796A>T	ENSP00000471150.2:p.Asn266Tyr
NM_000709.3:c.796A>T	NP_000700.1:p.Asn266Tyr
NM_001164783.1:c.796A>T	NP_001158255.1:p.Asn266Tyr
NM_000709.4:c.796A>T MANE Select	NP_000700.1:p.Asn266Tyr
NM_001164783.2:c.796A>T	NP_001158255.1:p.Asn266Tyr