Canonical Allele Identifier: CA406012679

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928080G>T (hg19) ; chr19:g.41422175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422175G>T , CM000681.2:g.41422175G>T	GRCh38
NC_000019.9:g.41928080G>T , CM000681.1:g.41928080G>T	GRCh37
NC_000019.8:g.46619920G>T	NCBI36
NG_013004.1:g.29387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.658G>T MANE Select	ENSP00000269980.2:p.Ala220Ser
ENST00000269980.6:c.658G>T	ENSP00000269980.2:p.Ala220Ser
ENST00000457836.6:c.592G>T	ENSP00000416000.2:p.Ala198Ser
ENST00000535632.5:n.287G>T
ENST00000538423.5:n.784G>T
ENST00000540732.3:c.760G>T	ENSP00000443246.1:p.Ala254Ser
ENST00000541315.1:c.558G>T
ENST00000542943.5:c.571G>T	ENSP00000440345.1:p.Ala191Ser
ENST00000545787.1:n.286G>T
ENST00000595085.5:c.658G>T	ENSP00000471150.2:p.Ala220Ser
NM_000709.3:c.658G>T	NP_000700.1:p.Ala220Ser
NM_001164783.1:c.658G>T	NP_001158255.1:p.Ala220Ser
NM_000709.4:c.658G>T MANE Select	NP_000700.1:p.Ala220Ser
NM_001164783.2:c.658G>T	NP_001158255.1:p.Ala220Ser