Canonical Allele Identifier: CA406012857

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928165C>G (hg19) ; chr19:g.41422260C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422260C>G , CM000681.2:g.41422260C>G	GRCh38
NC_000019.9:g.41928165C>G , CM000681.1:g.41928165C>G	GRCh37
NC_000019.8:g.46620005C>G	NCBI36
NG_013004.1:g.29472C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.743C>G MANE Select	ENSP00000269980.2:p.Ala248Gly
ENST00000269980.6:c.743C>G	ENSP00000269980.2:p.Ala248Gly
ENST00000457836.6:c.677C>G	ENSP00000416000.2:p.Ala226Gly
ENST00000535632.5:n.372C>G
ENST00000540732.3:c.845C>G	ENSP00000443246.1:p.Ala282Gly
ENST00000542943.5:c.656C>G	ENSP00000440345.1:p.Ala219Gly
ENST00000545787.1:n.371C>G
ENST00000595085.5:c.743C>G	ENSP00000471150.2:p.Ala248Gly
NM_000709.3:c.743C>G	NP_000700.1:p.Ala248Gly
NM_001164783.1:c.743C>G	NP_001158255.1:p.Ala248Gly
NM_000709.4:c.743C>G MANE Select	NP_000700.1:p.Ala248Gly
NM_001164783.2:c.743C>G	NP_001158255.1:p.Ala248Gly