Canonical Allele Identifier: CA406012660

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928069C>G (hg19) ; chr19:g.41422164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422164C>G , CM000681.2:g.41422164C>G	GRCh38
NC_000019.9:g.41928069C>G , CM000681.1:g.41928069C>G	GRCh37
NC_000019.8:g.46619909C>G	NCBI36
NG_013004.1:g.29376C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.647C>G MANE Select	ENSP00000269980.2:p.Ala216Gly
ENST00000269980.6:c.647C>G	ENSP00000269980.2:p.Ala216Gly
ENST00000457836.6:c.581C>G	ENSP00000416000.2:p.Ala194Gly
ENST00000535632.5:n.276C>G
ENST00000538423.5:n.773C>G
ENST00000540732.3:c.749C>G	ENSP00000443246.1:p.Ala250Gly
ENST00000541315.1:c.547C>G
ENST00000542943.5:c.560C>G	ENSP00000440345.1:p.Ala187Gly
ENST00000545787.1:n.275C>G
ENST00000595085.5:c.647C>G	ENSP00000471150.2:p.Ala216Gly
NM_000709.3:c.647C>G	NP_000700.1:p.Ala216Gly
NM_001164783.1:c.647C>G	NP_001158255.1:p.Ala216Gly
NM_000709.4:c.647C>G MANE Select	NP_000700.1:p.Ala216Gly
NM_001164783.2:c.647C>G	NP_001158255.1:p.Ala216Gly