Canonical Allele Identifier: CA406013005

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928234T>G (hg19) ; chr19:g.41422329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422329T>G , CM000681.2:g.41422329T>G	GRCh38
NC_000019.9:g.41928234T>G , CM000681.1:g.41928234T>G	GRCh37
NC_000019.8:g.46620074T>G	NCBI36
NG_013004.1:g.29541T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.812T>G MANE Select	ENSP00000269980.2:p.Ile271Ser
ENST00000269980.6:c.812T>G	ENSP00000269980.2:p.Ile271Ser
ENST00000457836.6:c.746T>G	ENSP00000416000.2:p.Ile249Ser
ENST00000535632.5:n.441T>G
ENST00000540732.3:c.914T>G	ENSP00000443246.1:p.Ile305Ser
ENST00000542943.5:c.725T>G	ENSP00000440345.1:p.Ile242Ser
ENST00000545787.1:n.440T>G
ENST00000595085.5:c.812T>G	ENSP00000471150.2:p.Ile271Ser
NM_000709.3:c.812T>G	NP_000700.1:p.Ile271Ser
NM_001164783.1:c.812T>G	NP_001158255.1:p.Ile271Ser
NM_000709.4:c.812T>G MANE Select	NP_000700.1:p.Ile271Ser
NM_001164783.2:c.812T>G	NP_001158255.1:p.Ile271Ser