Canonical Allele Identifier: CA507557482

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41919959G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414054G>T , CM000681.2:g.41414054G>T	GRCh38
NC_000019.9:g.41919959G>T , CM000681.1:g.41919959G>T	GRCh37
NC_000019.8:g.46611799G>T	NCBI36
NG_013004.1:g.21266G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.381G>T MANE Select	ENSP00000269980.2:p.Arg127=
ENST00000269980.6:c.381G>T	ENSP00000269980.2:p.Arg127=
ENST00000457836.6:c.315G>T	ENSP00000416000.2:p.Arg105=
ENST00000538423.5:n.507G>T
ENST00000540732.3:c.483G>T	ENSP00000443246.1:p.Arg161=
ENST00000541315.1:c.188G>T
ENST00000542943.5:c.294G>T	ENSP00000440345.1:p.Arg98=
ENST00000595085.5:c.381G>T	ENSP00000471150.2:p.Arg127=
NM_000709.3:c.381G>T	NP_000700.1:p.Arg127=
NM_001164783.1:c.381G>T	NP_001158255.1:p.Arg127=
NM_000709.4:c.381G>T MANE Select	NP_000700.1:p.Arg127=
NM_001164783.2:c.381G>T	NP_001158255.1:p.Arg127=