Canonical Allele Identifier: CA406012936

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039375470
• MyVariant Identifiers: chr19:g.41928202C>G (hg19) ; chr19:g.41422297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422297C>G , CM000681.2:g.41422297C>G	GRCh38
NC_000019.9:g.41928202C>G , CM000681.1:g.41928202C>G	GRCh37
NC_000019.8:g.46620042C>G	NCBI36
NG_013004.1:g.29509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.780C>G MANE Select	ENSP00000269980.2:p.Ile260Met
ENST00000269980.6:c.780C>G	ENSP00000269980.2:p.Ile260Met
ENST00000457836.6:c.714C>G	ENSP00000416000.2:p.Ile238Met
ENST00000535632.5:n.409C>G
ENST00000540732.3:c.882C>G	ENSP00000443246.1:p.Ile294Met
ENST00000542943.5:c.693C>G	ENSP00000440345.1:p.Ile231Met
ENST00000545787.1:n.408C>G
ENST00000595085.5:c.780C>G	ENSP00000471150.2:p.Ile260Met
NM_000709.3:c.780C>G	NP_000700.1:p.Ile260Met
NM_001164783.1:c.780C>G	NP_001158255.1:p.Ile260Met
NM_000709.4:c.780C>G MANE Select	NP_000700.1:p.Ile260Met
NM_001164783.2:c.780C>G	NP_001158255.1:p.Ile260Met