Canonical Allele Identifier: CA507555531

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1599953079
• MyVariant Identifiers: chr19:g.41916688A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410783A>G , CM000681.2:g.41410783A>G	GRCh38
NC_000019.9:g.41916688A>G , CM000681.1:g.41916688A>G	GRCh37
NC_000019.8:g.46608528A>G	NCBI36
NG_013004.1:g.17995A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.255A>G MANE Select	ENSP00000269980.2:p.Gln85=
ENST00000269980.6:c.255A>G	ENSP00000269980.2:p.Gln85=
ENST00000457836.6:c.189A>G	ENSP00000416000.2:p.Gln63=
ENST00000538423.5:n.275A>G
ENST00000540732.3:c.357A>G	ENSP00000443246.1:p.Gln119=
ENST00000541315.1:c.62A>G
ENST00000542943.5:c.255A>G	ENSP00000440345.1:p.Gln85=
ENST00000595085.5:c.255A>G	ENSP00000471150.2:p.Gln85=
ENST00000604424.1:n.497A>G
NM_000709.3:c.255A>G	NP_000700.1:p.Gln85=
NM_001164783.1:c.255A>G	NP_001158255.1:p.Gln85=
NM_000709.4:c.255A>G MANE Select	NP_000700.1:p.Gln85=
NM_001164783.2:c.255A>G	NP_001158255.1:p.Gln85=