Canonical Allele Identifier: CA507690373

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928100C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422195C>T , CM000681.2:g.41422195C>T	GRCh38
NC_000019.9:g.41928100C>T , CM000681.1:g.41928100C>T	GRCh37
NC_000019.8:g.46619940C>T	NCBI36
NG_013004.1:g.29407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.678C>T MANE Select	ENSP00000269980.2:p.Ala226=
ENST00000269980.6:c.678C>T	ENSP00000269980.2:p.Ala226=
ENST00000457836.6:c.612C>T	ENSP00000416000.2:p.Ala204=
ENST00000535632.5:n.307C>T
ENST00000538423.5:n.804C>T
ENST00000540732.3:c.780C>T	ENSP00000443246.1:p.Ala260=
ENST00000541315.1:c.578C>T
ENST00000542943.5:c.591C>T	ENSP00000440345.1:p.Ala197=
ENST00000545787.1:n.306C>T
ENST00000595085.5:c.678C>T	ENSP00000471150.2:p.Ala226=
NM_000709.3:c.678C>T	NP_000700.1:p.Ala226=
NM_001164783.1:c.678C>T	NP_001158255.1:p.Ala226=
NM_000709.4:c.678C>T MANE Select	NP_000700.1:p.Ala226=
NM_001164783.2:c.678C>T	NP_001158255.1:p.Ala226=