Canonical Allele Identifier: CA406004811

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916666T>G (hg19) ; chr19:g.41410761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410761T>G , CM000681.2:g.41410761T>G	GRCh38
NC_000019.9:g.41916666T>G , CM000681.1:g.41916666T>G	GRCh37
NC_000019.8:g.46608506T>G	NCBI36
NG_013004.1:g.17973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.233T>G MANE Select	ENSP00000269980.2:p.Ile78Ser
ENST00000269980.6:c.233T>G	ENSP00000269980.2:p.Ile78Ser
ENST00000457836.6:c.167T>G	ENSP00000416000.2:p.Ile56Ser
ENST00000538423.5:n.253T>G
ENST00000540732.3:c.335T>G	ENSP00000443246.1:p.Ile112Ser
ENST00000541315.1:c.40T>G
ENST00000542943.5:c.233T>G	ENSP00000440345.1:p.Ile78Ser
ENST00000595085.5:c.233T>G	ENSP00000471150.2:p.Ile78Ser
ENST00000604424.1:n.475T>G
NM_000709.3:c.233T>G	NP_000700.1:p.Ile78Ser
NM_001164783.1:c.233T>G	NP_001158255.1:p.Ile78Ser
NM_000709.4:c.233T>G MANE Select	NP_000700.1:p.Ile78Ser
NM_001164783.2:c.233T>G	NP_001158255.1:p.Ile78Ser