Canonical Allele Identifier: CA406005000

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916699T>G (hg19) ; chr19:g.41410794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410794T>G , CM000681.2:g.41410794T>G	GRCh38
NC_000019.9:g.41916699T>G , CM000681.1:g.41916699T>G	GRCh37
NC_000019.8:g.46608539T>G	NCBI36
NG_013004.1:g.18006T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.266T>G MANE Select	ENSP00000269980.2:p.Ile89Ser
ENST00000269980.6:c.266T>G	ENSP00000269980.2:p.Ile89Ser
ENST00000457836.6:c.200T>G	ENSP00000416000.2:p.Ile67Ser
ENST00000538423.5:n.286T>G
ENST00000540732.3:c.368T>G	ENSP00000443246.1:p.Ile123Ser
ENST00000541315.1:c.73T>G
ENST00000542943.5:c.266T>G	ENSP00000440345.1:p.Ile89Ser
ENST00000595085.5:c.266T>G	ENSP00000471150.2:p.Ile89Ser
ENST00000604424.1:n.508T>G
NM_000709.3:c.266T>G	NP_000700.1:p.Ile89Ser
NM_001164783.1:c.266T>G	NP_001158255.1:p.Ile89Ser
NM_000709.4:c.266T>G MANE Select	NP_000700.1:p.Ile89Ser
NM_001164783.2:c.266T>G	NP_001158255.1:p.Ile89Ser